chr4:55599320:G>T Detail (hg19) (KIT)

Information

Genome

Assembly Position
hg19 chr4:55,599,320-55,599,320
hg38 chr4:54,733,154-54,733,154 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001093772.1:c.2434G>T NP_001087241.1:p.Asp812Tyr
NM_000222.2:c.2446G>T NP_000213.1:p.Asp816Tyr
Ensemble ENST00000412167.7:c.2434G>T ENST00000412167.7:p.Asp812Tyr
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 4
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
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 COSM1310 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
Pathogenic t(8;21) acute myeloid leukemia somatic MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-10-02 no assertion criteria provided acute myeloid leukemia somatic Detail
Likely pathogenic 2014-10-02 no assertion criteria provided melanoma somatic Detail
Likely pathogenic 2016-05-13 no assertion criteria provided Hematologic neoplasm somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided gastrointestinal stromal tumor somatic Detail
Pathogenic 1998-07-15 no assertion criteria provided MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Xenograft Model Intermittent and continuous imatinib in a human GIST xenograft model carrying KI... BeFree 23480638 Detail
0.003 mast cell neoplasm Mutation at the equivalent position in the murine c-kit gene, involving a substi... BeFree 8962111 Detail
0.001 Mastocytoma Mutation at the equivalent position in the murine c-kit gene, involving a substi... BeFree 8962111 Detail
0.121 Malignant neoplasm of testis NA CLINVAR Detail
0.001 benign mastocytoma Mutation at the equivalent position in the murine c-kit gene, involving a substi... BeFree 8962111 Detail
0.126 Leukemia, Mast-Cell Moreover, ponatinib was highly active against xenografted D816V KIT tumors in nu... BeFree 24552773 Detail
0.301 Leukemia, Myelocytic, Acute NA CLINVAR Detail
0.760 Gastrointestinal Stromal Tumors Intermittent and continuous imatinib in a human GIST xenograft model carrying KI... BeFree 23480638 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000222.3(KIT):c.2446G>T (p.Asp816Tyr) AND Acute myeloid leukemia ClinVar Detail
NM_000222.3(KIT):c.2446G>T (p.Asp816Tyr) AND Melanoma ClinVar Detail
NM_000222.3(KIT):c.2446G>T (p.Asp816Tyr) AND Hematologic neoplasm ClinVar Detail
NM_000222.3(KIT):c.2446G>T (p.Asp816Tyr) AND Gastrointestinal stromal tumor ClinVar Detail
NM_000222.3(KIT):c.2446G>T (p.Asp816Tyr) AND MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC ClinVar Detail
Intermittent and continuous imatinib in a human GIST xenograft model carrying KIT exon 17 resistance... DisGeNET Detail
Mutation at the equivalent position in the murine c-kit gene, involving a substitution of tyrosine f... DisGeNET Detail
Mutation at the equivalent position in the murine c-kit gene, involving a substitution of tyrosine f... DisGeNET Detail
NA DisGeNET Detail
Mutation at the equivalent position in the murine c-kit gene, involving a substitution of tyrosine f... DisGeNET Detail
Moreover, ponatinib was highly active against xenografted D816V KIT tumors in nude mice and signific... DisGeNET Detail
NA DisGeNET Detail
Intermittent and continuous imatinib in a human GIST xenograft model carrying KIT exon 17 resistance... 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
rs121913506 dbSNP
Genome
hg19
Position
chr4:55,599,320-55,599,320
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
D816Y
Transcript 1 (CIViC Variant)
ENST00000288135.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/984
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