chr4:55599321:A>T Detail (hg19) (KIT)

Information

Genome

Assembly Position
hg19 chr4:55,599,321-55,599,321
hg38 chr4:54,733,155-54,733,155 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000222.2:c.2447A>T NP_000213.1:p.Asp816Val
NM_001093772.1:c.2435A>T NP_001087241.1:p.Asp812Val
Ensemble ENST00000288135.6:c.2447A>T ENST00000288135.6:p.Asp816Val
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 14
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 164920 OMIM
HGNC 6342 HGNC
Ensembl ENSG00000157404 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM1314 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided Acute myeloblastic leukaemia somatic MGS000005
(TMGS000006)
Keizo Horibe National Hospital Organization Nagoya Medical Center
not provided Myelodysplastic syndromes somatic MGS000005
(TMGS000006)
Keizo Horibe National Hospital Organization Nagoya Medical Center
Pathogenic t(8;21) acute myeloid leukemia somatic MGS000082
(TMGS000165)
Kenjiro Kosaki
Kenjiro Kosaki
Keio University
Mutation View
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2015-07-14 no assertion criteria provided Mast cell leukemia somatic Detail
Uncertain significance 2022-11-01 criteria provided, single submitter gastrointestinal stromal tumor germline somatic Detail
Likely pathogenic 2016-05-13 no assertion criteria provided Hematologic neoplasm somatic Detail
Pathogenic 2016-03-10 no assertion criteria provided acute myeloid leukemia somatic Detail
other 2016-05-01 no assertion criteria provided dysgerminoma somatic Detail
Pathogenic 2001-08-15 no assertion criteria provided MAST CELL LEUKEMIA, SOMATIC somatic Detail
Pathogenic 2001-08-15 no assertion criteria provided MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER, SOMATIC somatic Detail
Pathogenic 2001-08-15 no assertion criteria provided MASTOCYTOSIS, SYSTEMIC, SOMATIC somatic Detail
Conflicting interpretations of pathogenicity 2021-08-31 criteria provided, conflicting interpretations cutaneous mastocytosis germline unknown Detail
Pathogenic 2014-11-24 criteria provided, single submitter not provided germline Detail
Uncertain significance 2020-06-12 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
systemic mastocytosis Midostaurin B Predictive Supports Sensitivity/Response Somatic 4 27355533 Detail
systemic mastocytosis B Prognostic Supports Poor Outcome Somatic 4 26464169 Detail
cancer Imatinib D Predictive Supports Resistance Somatic 2 14645423 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 4 16384925 Detail
cancer Dasatinib,Imatinib C Predictive Supports Resistance Somatic 2 25317746 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.126 Leukemia, Mast-Cell Moreover, ponatinib was highly active against xenografted D816V KIT tumors in nu... BeFree 24552773 Detail
0.118 mastocytosis Together, the biologic effects of KIT D816V in BaF3 cells match strikingly with ... BeFree 18390729 Detail
0.001 chronic eosinophilic leukemia The broad and overlapping clinical manifestations of D816V KIT-associated system... BeFree 17628645 Detail
<0.001 Mastocytosis, Systemic The presence of the KIT D816V mutation in the CBF AML subgroup can therefore not... BeFree 22145956 Detail
0.001 Eosinophilia Thus, there is a clear prognostic and therapeutic rationale for detection of KIT... BeFree 26017288 Detail
0.760 Gastrointestinal Stromal Tumors Whereas KIT juxtamembrane domain mutations seen in most patients with GIST are h... BeFree 16912224 Detail
0.001 Eosinophilia Thus, there is a clear prognostic and therapeutic rationale for detection of KIT... BeFree 26017288 Detail
0.126 Leukemia, Mast-Cell Activity of the tyrosine kinase inhibitor PKC412 in a patient with mast cell leu... BeFree 15972446 Detail
0.281 Mastocytosis, Systemic KIT GNNK splice variants: expression in systemic mastocytosis and influence on t... BeFree 23743299 Detail
0.281 Mastocytosis, Systemic An immature immunophenotype of bone marrow mast cells predicts for multilineage ... BeFree 22051531 Detail
0.281 Mastocytosis, Systemic The KIT D816V mutation is frequently found in systemic mastocytosis, but it has ... BeFree 23388130 Detail
0.134 chronic eosinophilic leukemia KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-a... BeFree 17628645 Detail
<0.001 Mastocytosis, Systemic Our results show that aberrant expression of CD25 with a FcɛRI(lo), FSC(lo), SSC... BeFree 22051531 Detail
0.281 Mastocytosis, Systemic Our findings warrant a clinical trial of ponatinib in patients with systemic mas... BeFree 24552773 Detail
0.760 Gastrointestinal Stromal Tumors A KIT mutation was identified in six cases (67%), including three with the D816V... BeFree 24128084 Detail
0.281 Mastocytosis, Systemic Patients with Systemic Mastocytosis (SM) need a highly sensitive diagnostic test... BeFree 25582384 Detail
0.006 Mastocytosis, Systemic Morphologically occult involvement of normal-appearing BM by SM will be missed w... BeFree 26276780 Detail
0.006 Mastocytosis, Systemic KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-a... BeFree 17628645 Detail
0.001 Eosinophilia KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-a... BeFree 17628645 Detail
0.281 Mastocytosis, Systemic We recently introduced the D816V+ allele fraction as a disease marker in SM usin... BeFree 23621866 Detail
0.281 Mastocytosis, Systemic Expression of activated STAT5 in neoplastic mast cells in systemic mastocytosis:... BeFree 19893034 Detail
<0.001 Small Lymphocytic Lymphoma The KIT mutation D816V was detected in sorted CD34(+) cells and unfractionated m... BeFree 18448146 Detail
0.001 aggressive systemic mastocytosis A transgenic zebrafish model expressing KIT-D816V recapitulates features of aggr... BeFree 24989799 Detail
<0.001 Mastocytosis, Systemic If positive in BM, the KIT D816V mutation was found in PB of all patients with a... BeFree 24281161 Detail
0.019 urticaria pigmentosa High frequency of concomitant mastocytosis in patients with acute myeloid leukem... BeFree 20471335 Detail
0.281 Mastocytosis, Systemic In most patients with systemic mastocytosis (SM), including aggressive SM and ma... BeFree 16189265 Detail
0.001 Eosinophilic disorder Thus, there is a clear prognostic and therapeutic rationale for detection of KIT... BeFree 26017288 Detail
0.281 Mastocytosis, Systemic Systemic mastocytosis involving the gastrointestinal tract is associated with th... BeFree 18931652 Detail
<0.001 urticaria pigmentosa Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohis... BeFree 25912132 Detail
0.019 urticaria pigmentosa Bone marrow biopsies from 59 patients with mastocytosis in the skin and all avai... BeFree 23807778 Detail
0.281 Mastocytosis, Systemic Morphologically occult involvement of normal-appearing BM by SM will be missed w... BeFree 26276780 Detail
0.281 Mastocytosis, Systemic The Asp816Val mutation in the catalytic domain of the c-kit receptor has been id... BeFree 9827716 Detail
0.281 Mastocytosis, Systemic The C-KIT mutation Asp-816-Val confirmed the diagnosis of SM. BeFree 12007509 Detail
0.281 Mastocytosis, Systemic To conclude, the KIT D816V burden correlates with the variant of mastocytosis, p... BeFree 24750133 Detail
0.281 Mastocytosis, Systemic KIT-D816V-independent oncogenic signaling in neoplastic cells in systemic mastoc... BeFree 21680801 Detail
0.118 mastocytosis Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohis... BeFree 25912132 Detail
0.301 Leukemia, Myelocytic, Acute Substitution of valine (Val) for aspartic acid (Asp) at codon 814 constitutively... BeFree 12393643 Detail
0.001 chronic eosinophilic leukemia The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototyp... BeFree 22449623 Detail
0.134 chronic eosinophilic leukemia The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototyp... BeFree 22449623 Detail
0.118 mastocytosis The KIT D816V allele burden predicts survival in patients with mastocytosis and ... BeFree 24750133 Detail
0.019 urticaria pigmentosa Substitution of valine (Val) for aspartic acid (Asp) at codon 814 constitutively... BeFree 12393643 Detail
0.118 mastocytosis Sensitive KIT D816V mutation analysis of blood as a diagnostic test in mastocyto... BeFree 24443360 Detail
0.019 urticaria pigmentosa Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohis... BeFree 25912132 Detail
0.281 Mastocytosis, Systemic GEP analyses were performed by using DNA-oligonucleotide microarrays in highly p... BeFree 23403045 Detail
0.019 urticaria pigmentosa Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V a... BeFree 17065430 Detail
0.007 Mastocytosis, Systemic The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototyp... BeFree 22449623 Detail
0.118 mastocytosis Pediatric mastocytosis is a clonal disease associated with D816V and other activ... BeFree 19865100 Detail
0.118 mastocytosis Although the KIT D816V mutation is typically found in adult-onset mastocytosis, ... BeFree 24128084 Detail
0.006 Mastocytosis, Systemic Our results show that aberrant expression of CD25 with a FcɛRI(lo), FSC(lo), SSC... BeFree 22051531 Detail
0.001 urticaria pigmentosa Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohis... BeFree 25912132 Detail
0.019 urticaria pigmentosa Mastocytosis in mice expressing human Kit receptor with the activating Asp816Val... BeFree 16352739 Detail
<0.001 urticaria pigmentosa Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohis... BeFree 25912132 Detail
0.281 Mastocytosis, Systemic The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototyp... BeFree 22449623 Detail
0.019 urticaria pigmentosa ROSA(KIT D816V) may provide a valuable tool for studying the pathogenesis of mas... BeFree 24677542 Detail
0.019 urticaria pigmentosa These results demonstrate that the D816V Kit mutation enhances chemotaxis of CD1... BeFree 11493470 Detail
<0.001 Mastocytosis, Systemic If positive in BM, the KIT D816V mutation was found in PB of all patients with a... BeFree 24281161 Detail
0.001 benign mastocytoma We tested this hypothesis on a BaF/3 cell line modified to express either KIT wi... BeFree 23127495 Detail
<0.001 mastocytosis Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohis... BeFree 25912132 Detail
0.281 Mastocytosis, Systemic Systemic mastocytosis is uncommon in KIT D816V mutation positive core-binding fa... BeFree 22145956 Detail
<0.001 Mastocytosis, Systemic Control experiments showed that 10 indolent SM patients without associated MPD d... BeFree 18165278 Detail
0.001 Eosinophilic disorder Thus, there is a clear prognostic and therapeutic rationale for detection of KIT... BeFree 26017288 Detail
0.281 Mastocytosis, Systemic Six other patients reported symptomatic improvement, including two with D816V KI... BeFree 19193436 Detail
0.004 urticaria pigmentosa Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohis... BeFree 25912132 Detail
0.001 Mastocytoma We tested this hypothesis on a BaF/3 cell line modified to express either KIT wi... BeFree 23127495 Detail
0.004 core binding factor acute myeloid leukemia Systemic mastocytosis is uncommon in KIT D816V mutation positive core-binding fa... BeFree 22145956 Detail
0.019 urticaria pigmentosa The reason for this decreased sensitivity to TKIs is related to the resistance o... BeFree 22204765 Detail
0.281 Mastocytosis, Systemic KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-a... BeFree 17628645 Detail
0.002 mastocytosis Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohis... BeFree 25912132 Detail
0.019 urticaria pigmentosa Although the KIT D816V mutation is typically found in adult-onset mastocytosis, ... BeFree 24128084 Detail
0.019 urticaria pigmentosa Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytos... BeFree 23777495 Detail
<0.001 Hypereosinophilia KIT D816V and JAK2 V617F mutations are seen recurrently in hypereosinophilia of ... BeFree 26017288 Detail
0.281 Mastocytosis, Systemic Cooperating genetic events are likely to contribute to the phenotypic diversity ... BeFree 21134978 Detail
0.281 Mastocytosis, Systemic In a majority of all patients with systemic mastocytosis (SM) including those wi... BeFree 18024392 Detail
0.118 mastocytosis For those malignancies associated with KIT mutation or over-expression, imatinib... BeFree 16183119 Detail
0.006 Mastocytosis, Systemic Bone marrow biopsies from 59 patients with mastocytosis in the skin and all avai... BeFree 23807778 Detail
0.002 mastocytosis Bone marrow biopsies from 59 patients with mastocytosis in the skin and all avai... BeFree 23807778 Detail
0.019 urticaria pigmentosa For those malignancies associated with KIT mutation or over-expression, imatinib... BeFree 16183119 Detail
<0.001 Hypereosinophilia KIT D816V and JAK2 V617F mutations are seen recurrently in hypereosinophilia of ... BeFree 26017288 Detail
0.118 mastocytosis ROSA(KIT D816V) may provide a valuable tool for studying the pathogenesis of mas... BeFree 24677542 Detail
0.118 mastocytosis Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V a... BeFree 17065430 Detail
0.281 Mastocytosis, Systemic ROSA(KIT D816V) may provide a valuable tool for studying the pathogenesis of mas... BeFree 24677542 Detail
0.281 Mastocytosis, Systemic To gain better insight into clinical characteristics, we compared these cases wi... BeFree 26017288 Detail
0.281 Mastocytosis, Systemic Investigation for presence of the activating KIT point mutation D816V is very he... BeFree 20616612 Detail
0.003 Hypereosinophilia We therefore investigated 426 samples from patients with hypereosinophilia of un... BeFree 26017288 Detail
<0.001 Disorder of intra-abdominal lymph nodes To gain better insight into clinical characteristics, we compared these cases wi... BeFree 26017288 Detail
<0.001 Allergic disposition Our data show that KIT D816V is a disease-propagating oncoprotein, but it does n... BeFree 24677542 Detail
0.118 mastocytosis Whereas in pediatric mastocytosis, which is usually confined to the skin, a numb... BeFree 21083038 Detail
0.019 leukemia In most patients with systemic mastocytosis (SM), including aggressive SM (ASM) ... BeFree 20553795 Detail
0.019 leukemia Additionally, dasatinib induced apoptosis in mast cell and leukemia cell lines e... BeFree 18986703 Detail
0.281 Mastocytosis, Systemic Moreover, MCL-1 was detectable in both subclones of the MC line HMC-1--HMC-1.1 c... BeFree 17110460 Detail
0.004 urticaria pigmentosa Bone marrow biopsies from 59 patients with mastocytosis in the skin and all avai... BeFree 23807778 Detail
0.019 urticaria pigmentosa Sensitive detection of KIT D816V in patients with mastocytosis. BeFree 17040960 Detail
0.118 mastocytosis High frequency of concomitant mastocytosis in patients with acute myeloid leukem... BeFree 20471335 Detail
<0.001 Mastocytosis, Systemic Identification of oncostatin M as a STAT5-dependent mediator of bone marrow remo... BeFree 21457934 Detail
0.003 Mastocytosis, Systemic Bone marrow biopsies from 59 patients with mastocytosis in the skin and all avai... BeFree 23807778 Detail
0.001 Disorder characterized by eosinophilia KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-a... BeFree 17628645 Detail
0.118 mastocytosis Substitution of valine (Val) for aspartic acid (Asp) at codon 814 constitutively... BeFree 12393643 Detail
0.118 mastocytosis The reason for this decreased sensitivity to TKIs is related to the resistance o... BeFree 22204765 Detail
0.118 mastocytosis These results demonstrate that the D816V Kit mutation enhances chemotaxis of CD1... BeFree 11493470 Detail
0.001 Eosinophilic disorder KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-a... BeFree 17628645 Detail
0.281 Mastocytosis, Systemic Identification of oncostatin M as a STAT5-dependent mediator of bone marrow remo... BeFree 21457934 Detail
0.019 urticaria pigmentosa The KIT D816V allele burden predicts survival in patients with mastocytosis and ... BeFree 24750133 Detail
0.001 urticaria pigmentosa Bone marrow biopsies from 59 patients with mastocytosis in the skin and all avai... BeFree 23807778 Detail
0.281 Mastocytosis, Systemic We found that the D816V-mutated variant of KIT, a TK detectable in most patients... BeFree 18390729 Detail
0.118 mastocytosis Mastocytosis in mice expressing human Kit receptor with the activating Asp816Val... BeFree 16352739 Detail
0.019 urticaria pigmentosa Whereas in pediatric mastocytosis, which is usually confined to the skin, a numb... BeFree 21083038 Detail
0.002 mastocytosis Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohis... BeFree 25912132 Detail
0.126 Leukemia, Mast-Cell NA CLINVAR Detail
0.019 urticaria pigmentosa Pediatric mastocytosis is a clonal disease associated with D816V and other activ... BeFree 19865100 Detail
0.003 Mastocytosis, Systemic Morphologically occult involvement of normal-appearing BM by SM will be missed w... BeFree 26276780 Detail
0.118 mastocytosis Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytos... BeFree 23777495 Detail
0.003 mast cell neoplasm We tested this hypothesis on a BaF/3 cell line modified to express either KIT wi... BeFree 23127495 Detail
0.281 Mastocytosis, Systemic Molecular profiling of myeloid progenitor cells in multi-mutated advanced system... BeFree 25567135 Detail
0.135 chronic eosinophilic leukemia The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototyp... BeFree 22449623 Detail
0.126 Leukemia, Mast-Cell Ponatinib was found to inhibit the kinase activity of KIT G560V and KIT D816V in... BeFree 23539538 Detail
<0.001 Microphthalmos We found that the D816V-mutated variant of KIT, a TK detectable in most patients... BeFree 18390729 Detail
0.301 Leukemia, Myelocytic, Acute High frequency of concomitant mastocytosis in patients with acute myeloid leukem... BeFree 20471335 Detail
0.118 mastocytosis Sensitive detection of KIT D816V in patients with mastocytosis. BeFree 17040960 Detail
0.006 Leukemia, Myelocytic, Acute The presence of the KIT D816V mutation in the CBF AML subgroup can therefore not... BeFree 22145956 Detail
0.002 indolent systemic mastocytosis Serum tryptase correlates with the KIT D816V mutation burden in adults with indo... BeFree 23621866 Detail
0.002 indolent systemic mastocytosis KIT D816V mutation burden does not correlate to clinical manifestations of indol... BeFree 23587333 Detail
0.281 Mastocytosis, Systemic D816V KIT mutation, found in ∼80% of SM, is resistant to the currently available... BeFree 25088577 Detail
0.281 Mastocytosis, Systemic These findings demonstrate that the ACB-PCR assay combined with ESMA is a rapid ... BeFree 17040960 Detail
0.281 Mastocytosis, Systemic KIT D816V mutation has been observed in more than 90% of patients with systemic ... BeFree 20038218 Detail
0.281 Mastocytosis, Systemic In summary, our data show that KIT D816V in AML is highly associated with co-exi... BeFree 20471335 Detail
0.301 Leukemia, Myelocytic, Acute Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V a... BeFree 17065430 Detail
0.281 Mastocytosis, Systemic Bone marrow biopsies from 59 patients with mastocytosis in the skin and all avai... BeFree 23807778 Detail
0.281 Mastocytosis, Systemic Improved detection of the KIT D816V mutation in patients with systemic mastocyto... BeFree 21354053 Detail
0.019 urticaria pigmentosa Sensitive KIT D816V mutation analysis of blood as a diagnostic test in mastocyto... BeFree 24443360 Detail
0.002 indolent systemic mastocytosis Based on all these results, it is hypothesized that KIT D816V as a single hit ma... BeFree 18390729 Detail
0.281 Mastocytosis, Systemic INNO-406 was found to inhibit proliferation in HMC-1.1 cells (IC(50): 30-40 nM),... BeFree 20685234 Detail
0.281 Mastocytosis, Systemic The high frequency of KIT(D816V) in neoplastic mast cells and leukaemic myelomon... BeFree 20112369 Detail
0.001 Disorder characterized by eosinophilia Thus, there is a clear prognostic and therapeutic rationale for detection of KIT... BeFree 26017288 Detail
<0.001 adult acute lymphocytic leukemia We demonstrate for the first time that by using a sufficiently sensitive KIT D81... BeFree 24443360 Detail
0.301 Leukemia, Myelocytic, Acute Chemotherapy and dasatinib induce long-term hematologic and molecular remission ... BeFree 18986703 Detail
0.281 Mastocytosis, Systemic Using highly sensitive assays, KIT D816V can be detected in peripheral blood leu... BeFree 25650093 Detail
0.126 Leukemia, Mast-Cell To explore mechanisms contributing to the clinical heterogeneity of systemic mas... BeFree 23958953 Detail
0.002 indolent systemic mastocytosis Circulating KIT D816V mutation-positive non-mast cells in peripheral blood are c... BeFree 22469616 Detail
0.003 Mastocytosis, Systemic Our results show that aberrant expression of CD25 with a FcɛRI(lo), FSC(lo), SSC... BeFree 22051531 Detail
0.002 mastocytosis Bone marrow biopsies from 59 patients with mastocytosis in the skin and all avai... BeFree 23807778 Detail
<0.001 mastocytosis Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohis... BeFree 25912132 Detail
0.002 indolent systemic mastocytosis The impact of sensitive KIT D816V detection on recognition of indolent Systemic ... BeFree 25582384 Detail
0.126 Leukemia, Mast-Cell Confirming previous studies, dasatinib was found to inhibit the TK activity of w... BeFree 18024392 Detail
0.281 Mastocytosis, Systemic To explore mechanisms contributing to the clinical heterogeneity of systemic mas... BeFree 23958953 Detail
0.281 Mastocytosis, Systemic The KIT D816V expressed allele burden for diagnosis and disease monitoring of sy... BeFree 24281161 Detail
0.126 Leukemia, Mast-Cell In most patients with systemic mastocytosis (SM), including aggressive SM and ma... BeFree 16189265 Detail
0.281 Mastocytosis, Systemic A case of systemic mastocytosis carrying the characteristic mutation at codon 81... BeFree 18663058 Detail
0.281 Mastocytosis, Systemic KIT D816V mutation-positive cell fractions in lesional skin biopsies from adults... BeFree 23774045 Detail
0.281 Mastocytosis, Systemic The majority of patients with systemic mastocytosis exhibit a D816V mutation in ... BeFree 23152053 Detail
0.281 Mastocytosis, Systemic Chemotherapy and dasatinib induce long-term hematologic and molecular remission ... BeFree 18986703 Detail
0.001 Disorder characterized by eosinophilia Thus, there is a clear prognostic and therapeutic rationale for detection of KIT... BeFree 26017288 Detail
0.001 Mastocytosis, Systemic Expression of activated STAT5 in neoplastic mast cells in systemic mastocytosis:... BeFree 19893034 Detail
0.118 mastocytosis Bone marrow biopsies from 59 patients with mastocytosis in the skin and all avai... BeFree 23807778 Detail
0.001 Mastocytosis, Systemic Expression of activated STAT5 in neoplastic mast cells in systemic mastocytosis:... BeFree 19893034 Detail
0.019 leukemia Two subclones of the HMC1 mast leukaemia cell line were used; both express an id... BeFree 19804454 Detail
<0.001 Mastocytosis, Systemic Analysis of V600E BRAF and D816V KIT mutations in systemic mastocytosis. BeFree 25034364 Detail
0.281 Mastocytosis, Systemic Analysis of V600E BRAF and D816V KIT mutations in systemic mastocytosis. BeFree 25034364 Detail
Annotation

Annotations

DescrptionSourceLinks
In a phase II clinical trial, 60% of patients (N=89) with advanced systemic mastocytosis responded t... CIViC Evidence Detail
The D816V+ advanced systemic mastocytosis patients with additional mutations in SRSF2 (N=30), ASLX1 ... CIViC Evidence Detail
In an in vitro study of imatinib sensitivity, KIT D816V was cloned into a plasmid by site-directed m... CIViC Evidence Detail
In acute myloid leukemia patients, D816 mutation is associated with earlier relapse and poorer progn... CIViC Evidence Detail
In an in vitro study, COS-7 cells expressing KIT D816V activating mutation demonstrated resistance t... CIViC Evidence Detail
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) AND Mast cell leukemia ClinVar Detail
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) AND Gastrointestinal stromal tumor ClinVar Detail
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) AND Hematologic neoplasm ClinVar Detail
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) AND Acute myeloid leukemia ClinVar Detail
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) AND Dysgerminoma ClinVar Detail
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) AND MAST CELL LEUKEMIA, SOMATIC ClinVar Detail
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) AND MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER, SOMA... ClinVar Detail
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) AND MASTOCYTOSIS, SYSTEMIC, SOMATIC ClinVar Detail
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) AND Cutaneous mastocytosis ClinVar Detail
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) AND not provided ClinVar Detail
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) AND Hereditary cancer-predisposing syndrome ClinVar Detail
Moreover, ponatinib was highly active against xenografted D816V KIT tumors in nude mice and signific... DisGeNET Detail
Together, the biologic effects of KIT D816V in BaF3 cells match strikingly with the clinical course ... DisGeNET Detail
The broad and overlapping clinical manifestations of D816V KIT-associated systemic mastocytosis with... DisGeNET Detail
The presence of the KIT D816V mutation in the CBF AML subgroup can therefore not be considered indic... DisGeNET Detail
Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617... DisGeNET Detail
Whereas KIT juxtamembrane domain mutations seen in most patients with GIST are highly sensitive to i... DisGeNET Detail
Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617... DisGeNET Detail
Activity of the tyrosine kinase inhibitor PKC412 in a patient with mast cell leukemia with the D816V... DisGeNET Detail
KIT GNNK splice variants: expression in systemic mastocytosis and influence on the activating potent... DisGeNET Detail
An immature immunophenotype of bone marrow mast cells predicts for multilineage D816V KIT mutation i... DisGeNET Detail
The KIT D816V mutation is frequently found in systemic mastocytosis, but it has not been documented ... DisGeNET Detail
KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eo... DisGeNET Detail
Our results show that aberrant expression of CD25 with a FcɛRI(lo), FSC(lo), SSC(lo) and CD45(lo) im... DisGeNET Detail
Our findings warrant a clinical trial of ponatinib in patients with systemic mastocytosis harboring ... DisGeNET Detail
A KIT mutation was identified in six cases (67%), including three with the D816V mutation typical of... DisGeNET Detail
Patients with Systemic Mastocytosis (SM) need a highly sensitive diagnostic test for D816V detection... DisGeNET Detail
Morphologically occult involvement of normal-appearing BM by SM will be missed without appropriate c... DisGeNET Detail
KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eo... DisGeNET Detail
KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eo... DisGeNET Detail
We recently introduced the D816V+ allele fraction as a disease marker in SM using a sensitive and qu... DisGeNET Detail
Expression of activated STAT5 in neoplastic mast cells in systemic mastocytosis: subcellular distrib... DisGeNET Detail
The KIT mutation D816V was detected in sorted CD34(+) cells and unfractionated marrow cells but not ... DisGeNET Detail
A transgenic zebrafish model expressing KIT-D816V recapitulates features of aggressive systemic mast... DisGeNET Detail
If positive in BM, the KIT D816V mutation was found in PB of all patients with advanced SM (SM-AHNMD... DisGeNET Detail
High frequency of concomitant mastocytosis in patients with acute myeloid leukemia exhibiting the tr... DisGeNET Detail
In most patients with systemic mastocytosis (SM), including aggressive SM and mast cell leukemia (MC... DisGeNET Detail
Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617... DisGeNET Detail
Systemic mastocytosis involving the gastrointestinal tract is associated with the usual D816V KIT mu... DisGeNET Detail
Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with an... DisGeNET Detail
Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies ... DisGeNET Detail
Morphologically occult involvement of normal-appearing BM by SM will be missed without appropriate c... DisGeNET Detail
The Asp816Val mutation in the catalytic domain of the c-kit receptor has been identified in patients... DisGeNET Detail
The C-KIT mutation Asp-816-Val confirmed the diagnosis of SM. DisGeNET Detail
To conclude, the KIT D816V burden correlates with the variant of mastocytosis, predicts survival, an... DisGeNET Detail
KIT-D816V-independent oncogenic signaling in neoplastic cells in systemic mastocytosis: role of Lyn ... DisGeNET Detail
Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with an... DisGeNET Detail
Substitution of valine (Val) for aspartic acid (Asp) at codon 814 constitutively activates murine c-... DisGeNET Detail
The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototypic oncogenic lesions... DisGeNET Detail
The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototypic oncogenic lesions... DisGeNET Detail
The KIT D816V allele burden predicts survival in patients with mastocytosis and correlates with the ... DisGeNET Detail
Substitution of valine (Val) for aspartic acid (Asp) at codon 814 constitutively activates murine c-... DisGeNET Detail
Sensitive KIT D816V mutation analysis of blood as a diagnostic test in mastocytosis. DisGeNET Detail
Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with an... DisGeNET Detail
GEP analyses were performed by using DNA-oligonucleotide microarrays in highly purified BMMCs from p... DisGeNET Detail
Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V and D816F mutations i... DisGeNET Detail
The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototypic oncogenic lesions... DisGeNET Detail
Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutation... DisGeNET Detail
Although the KIT D816V mutation is typically found in adult-onset mastocytosis, it is less commonly ... DisGeNET Detail
Our results show that aberrant expression of CD25 with a FcɛRI(lo), FSC(lo), SSC(lo) and CD45(lo) im... DisGeNET Detail
Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with an... DisGeNET Detail
Mastocytosis in mice expressing human Kit receptor with the activating Asp816Val mutation. DisGeNET Detail
Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with an... DisGeNET Detail
The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototypic oncogenic lesions... DisGeNET Detail
ROSA(KIT D816V) may provide a valuable tool for studying the pathogenesis of mastocytosis and should... DisGeNET Detail
These results demonstrate that the D816V Kit mutation enhances chemotaxis of CD117(+) cells, offerin... DisGeNET Detail
If positive in BM, the KIT D816V mutation was found in PB of all patients with advanced SM (SM-AHNMD... DisGeNET Detail
We tested this hypothesis on a BaF/3 cell line modified to express either KIT wild-type (WT) or KIT ... DisGeNET Detail
Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with an... DisGeNET Detail
Systemic mastocytosis is uncommon in KIT D816V mutation positive core-binding factor acute myeloid l... DisGeNET Detail
Control experiments showed that 10 indolent SM patients without associated MPD did not carry the JAK... DisGeNET Detail
Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617... DisGeNET Detail
Six other patients reported symptomatic improvement, including two with D816V KIT mutation-positive ... DisGeNET Detail
Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with an... DisGeNET Detail
We tested this hypothesis on a BaF/3 cell line modified to express either KIT wild-type (WT) or KIT ... DisGeNET Detail
Systemic mastocytosis is uncommon in KIT D816V mutation positive core-binding factor acute myeloid l... DisGeNET Detail
The reason for this decreased sensitivity to TKIs is related to the resistance of the D816V variant ... DisGeNET Detail
KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eo... DisGeNET Detail
Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with an... DisGeNET Detail
Although the KIT D816V mutation is typically found in adult-onset mastocytosis, it is less commonly ... DisGeNET Detail
Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytosis. DisGeNET Detail
KIT D816V and JAK2 V617F mutations are seen recurrently in hypereosinophilia of unknown significance... DisGeNET Detail
Cooperating genetic events are likely to contribute to the phenotypic diversity of KIT-D816V systemi... DisGeNET Detail
In a majority of all patients with systemic mastocytosis (SM) including those with mast cell leukemi... DisGeNET Detail
For those malignancies associated with KIT mutation or over-expression, imatinib offers a specific t... DisGeNET Detail
Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies ... DisGeNET Detail
Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies ... DisGeNET Detail
For those malignancies associated with KIT mutation or over-expression, imatinib offers a specific t... DisGeNET Detail
KIT D816V and JAK2 V617F mutations are seen recurrently in hypereosinophilia of unknown significance... DisGeNET Detail
ROSA(KIT D816V) may provide a valuable tool for studying the pathogenesis of mastocytosis and should... DisGeNET Detail
Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V and D816F mutations i... DisGeNET Detail
ROSA(KIT D816V) may provide a valuable tool for studying the pathogenesis of mastocytosis and should... DisGeNET Detail
To gain better insight into clinical characteristics, we compared these cases with 31 additional and... DisGeNET Detail
Investigation for presence of the activating KIT point mutation D816V is very helpful to establish a... DisGeNET Detail
We therefore investigated 426 samples from patients with hypereosinophilia of unknown significance i... DisGeNET Detail
To gain better insight into clinical characteristics, we compared these cases with 31 additional and... DisGeNET Detail
Our data show that KIT D816V is a disease-propagating oncoprotein, but it does not activate MCs to r... DisGeNET Detail
Whereas in pediatric mastocytosis, which is usually confined to the skin, a number of different KIT ... DisGeNET Detail
In most patients with systemic mastocytosis (SM), including aggressive SM (ASM) and mast cell (MC) l... DisGeNET Detail
Additionally, dasatinib induced apoptosis in mast cell and leukemia cell lines expressing KIT(D816V)... DisGeNET Detail
Moreover, MCL-1 was detectable in both subclones of the MC line HMC-1--HMC-1.1 cells, which lack the... DisGeNET Detail
Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies ... DisGeNET Detail
Sensitive detection of KIT D816V in patients with mastocytosis. DisGeNET Detail
High frequency of concomitant mastocytosis in patients with acute myeloid leukemia exhibiting the tr... DisGeNET Detail
Identification of oncostatin M as a STAT5-dependent mediator of bone marrow remodeling in KIT D816V-... DisGeNET Detail
Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies ... DisGeNET Detail
KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eo... DisGeNET Detail
Substitution of valine (Val) for aspartic acid (Asp) at codon 814 constitutively activates murine c-... DisGeNET Detail
The reason for this decreased sensitivity to TKIs is related to the resistance of the D816V variant ... DisGeNET Detail
These results demonstrate that the D816V Kit mutation enhances chemotaxis of CD117(+) cells, offerin... DisGeNET Detail
KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eo... DisGeNET Detail
Identification of oncostatin M as a STAT5-dependent mediator of bone marrow remodeling in KIT D816V-... DisGeNET Detail
The KIT D816V allele burden predicts survival in patients with mastocytosis and correlates with the ... DisGeNET Detail
Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies ... DisGeNET Detail
We found that the D816V-mutated variant of KIT, a TK detectable in most patients with systemic masto... DisGeNET Detail
Mastocytosis in mice expressing human Kit receptor with the activating Asp816Val mutation. DisGeNET Detail
Whereas in pediatric mastocytosis, which is usually confined to the skin, a number of different KIT ... DisGeNET Detail
Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with an... DisGeNET Detail
NA DisGeNET Detail
Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutation... DisGeNET Detail
Morphologically occult involvement of normal-appearing BM by SM will be missed without appropriate c... DisGeNET Detail
Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytosis. DisGeNET Detail
We tested this hypothesis on a BaF/3 cell line modified to express either KIT wild-type (WT) or KIT ... DisGeNET Detail
Molecular profiling of myeloid progenitor cells in multi-mutated advanced systemic mastocytosis iden... DisGeNET Detail
The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototypic oncogenic lesions... DisGeNET Detail
Ponatinib was found to inhibit the kinase activity of KIT G560V and KIT D816V in the human mast cell... DisGeNET Detail
We found that the D816V-mutated variant of KIT, a TK detectable in most patients with systemic masto... DisGeNET Detail
High frequency of concomitant mastocytosis in patients with acute myeloid leukemia exhibiting the tr... DisGeNET Detail
Sensitive detection of KIT D816V in patients with mastocytosis. DisGeNET Detail
The presence of the KIT D816V mutation in the CBF AML subgroup can therefore not be considered indic... DisGeNET Detail
Serum tryptase correlates with the KIT D816V mutation burden in adults with indolent systemic mastoc... DisGeNET Detail
KIT D816V mutation burden does not correlate to clinical manifestations of indolent systemic mastocy... DisGeNET Detail
D816V KIT mutation, found in ∼80% of SM, is resistant to the currently available tyrosine kinase inh... DisGeNET Detail
These findings demonstrate that the ACB-PCR assay combined with ESMA is a rapid and highly sensitive... DisGeNET Detail
KIT D816V mutation has been observed in more than 90% of patients with systemic mastocytosis (SM). DisGeNET Detail
In summary, our data show that KIT D816V in AML is highly associated with co-existing SM (SM-AML). DisGeNET Detail
Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V and D816F mutations i... DisGeNET Detail
Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies ... DisGeNET Detail
Improved detection of the KIT D816V mutation in patients with systemic mastocytosis using a quantita... DisGeNET Detail
Sensitive KIT D816V mutation analysis of blood as a diagnostic test in mastocytosis. DisGeNET Detail
Based on all these results, it is hypothesized that KIT D816V as a single hit may be sufficient to c... DisGeNET Detail
INNO-406 was found to inhibit proliferation in HMC-1.1 cells (IC(50): 30-40 nM), but not in HMC-1.2 ... DisGeNET Detail
The high frequency of KIT(D816V) in neoplastic mast cells and leukaemic myelomonocytic cells in SM-C... DisGeNET Detail
Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617... DisGeNET Detail
We demonstrate for the first time that by using a sufficiently sensitive KIT D816V mutation analysis... DisGeNET Detail
Chemotherapy and dasatinib induce long-term hematologic and molecular remission in systemic mastocyt... DisGeNET Detail
Using highly sensitive assays, KIT D816V can be detected in peripheral blood leukocytes from most pa... DisGeNET Detail
To explore mechanisms contributing to the clinical heterogeneity of systemic mastocytosis (SM) and t... DisGeNET Detail
Circulating KIT D816V mutation-positive non-mast cells in peripheral blood are characteristic of ind... DisGeNET Detail
Our results show that aberrant expression of CD25 with a FcɛRI(lo), FSC(lo), SSC(lo) and CD45(lo) im... DisGeNET Detail
Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies ... DisGeNET Detail
Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with an... DisGeNET Detail
The impact of sensitive KIT D816V detection on recognition of indolent Systemic Mastocytosis. DisGeNET Detail
Confirming previous studies, dasatinib was found to inhibit the TK activity of wild type (wt) KIT an... DisGeNET Detail
To explore mechanisms contributing to the clinical heterogeneity of systemic mastocytosis (SM) and t... DisGeNET Detail
The KIT D816V expressed allele burden for diagnosis and disease monitoring of systemic mastocytosis. DisGeNET Detail
In most patients with systemic mastocytosis (SM), including aggressive SM and mast cell leukemia (MC... DisGeNET Detail
A case of systemic mastocytosis carrying the characteristic mutation at codon 816 (D816V) in the KIT... DisGeNET Detail
KIT D816V mutation-positive cell fractions in lesional skin biopsies from adults with systemic masto... DisGeNET Detail
The majority of patients with systemic mastocytosis exhibit a D816V mutation in the activating loop ... DisGeNET Detail
Chemotherapy and dasatinib induce long-term hematologic and molecular remission in systemic mastocyt... DisGeNET Detail
Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617... DisGeNET Detail
Expression of activated STAT5 in neoplastic mast cells in systemic mastocytosis: subcellular distrib... DisGeNET Detail
Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies ... DisGeNET Detail
Expression of activated STAT5 in neoplastic mast cells in systemic mastocytosis: subcellular distrib... DisGeNET Detail
Two subclones of the HMC1 mast leukaemia cell line were used; both express an identical KIT allele-s... DisGeNET Detail
Analysis of V600E BRAF and D816V KIT mutations in systemic mastocytosis. DisGeNET Detail
Analysis of V600E BRAF and D816V KIT mutations in systemic mastocytosis. DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs121913507 dbSNP
Genome
hg19
Position
chr4:55,599,321-55,599,321
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
D816V
Transcript 1 (CIViC Variant)
ENST00000288135.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/65
Summary (CIViC Variant)
KIT D816V is a mutation observed in acute myeloid leukemia (AML). This variant has been linked to poorer prognosis and worse outcome in AML patients.
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