chr4:54727447:T>A Detail (hg38) (KIT)

Information

Genome

Assembly Position
hg19 chr4:55,593,613-55,593,613 View the variant detail on this assembly version.
hg38 chr4:54,727,447-54,727,447

HGVS

Type Transcript Protein
RefSeq NM_000222.2:c.1679T>A NP_000213.1:p.Val560Asp
NM_001093772.1:c.1670T>A NP_001087241.1:p.Val557Asp
Ensemble ENST00000288135.6:c.1679T>A ENST00000288135.6:p.Val560Asp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 COSM1257 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2015-07-14 no assertion criteria provided melanoma somatic Detail
Likely pathogenic 2016-05-13 no assertion criteria provided gastrointestinal stromal tumor somatic Detail
Likely pathogenic 2024-02-23 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
cancer Sunitinib D Predictive Does Not Support Resistance Somatic 2 18955458 Detail
gastrointestinal stromal tumor Sunitinib C Predictive Supports Resistance Somatic 3 18955458 Detail
gastrointestinal stromal tumor Sunitinib,Regorafenib,Ponatinib,Imatinib D Predictive Supports Sensitivity/Response Somatic 3 25239608 Detail
cancer Imatinib Mesylate D Predictive Supports Sensitivity/Response Somatic 2 18955458 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.760 Gastrointestinal Stromal Tumors Previously, we found 2 types of gain-of-function mutation of the PDGFRA gene, Va... BeFree 15221957 Detail
0.616 Gastrointestinal Stromal Tumors Previously, we found 2 types of gain-of-function mutation of the PDGFRA gene, Va... BeFree 15221957 Detail
0.019 urticaria pigmentosa Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytos... BeFree 23777495 Detail
0.118 mastocytosis Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytos... BeFree 23777495 Detail
0.126 Leukemia, Mast-Cell Ponatinib was found to inhibit the kinase activity of KIT G560V and KIT D816V in... BeFree 23539538 Detail
0.019 leukemia Two subclones of the HMC1 mast leukaemia cell line were used; both express an id... BeFree 19804454 Detail
0.760 Gastrointestinal Stromal Tumors We expressed c-KIT cDNA constructs encoding the V654A substitution alone and in ... BeFree 17363509 Detail
Annotation

Annotations

DescrptionSourceLinks
In an in vitro study, Chinese hamster ovary cells expressing KIT V560D demonstrated comparable sensi... CIViC Evidence Detail
Patient 72 from a larger cohort of genotyped patients (n= 78) with imatinib resistant or intolerant ... CIViC Evidence Detail
In an in vitro study, an IL3 independent Ba/F3 cell line expressing KIT V560D primary activating mut... CIViC Evidence Detail
In an in vitro study, Chinese hamster ovary cells expressing KIT V560D mutation demonstrated sensiti... CIViC Evidence Detail
NM_000222.3(KIT):c.1679T>A (p.Val560Asp) AND Melanoma ClinVar Detail
NM_000222.3(KIT):c.1679T>A (p.Val560Asp) AND Gastrointestinal stromal tumor ClinVar Detail
NM_000222.3(KIT):c.1679T>A (p.Val560Asp) AND Hereditary cancer-predisposing syndrome ClinVar Detail
Previously, we found 2 types of gain-of-function mutation of the PDGFRA gene, Val561 to Asp and Asp8... DisGeNET Detail
Previously, we found 2 types of gain-of-function mutation of the PDGFRA gene, Val561 to Asp and Asp8... DisGeNET Detail
Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytosis. DisGeNET Detail
Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytosis. DisGeNET Detail
Ponatinib was found to inhibit the kinase activity of KIT G560V and KIT D816V in the human mast cell... DisGeNET Detail
Two subclones of the HMC1 mast leukaemia cell line were used; both express an identical KIT allele-s... DisGeNET Detail
We expressed c-KIT cDNA constructs encoding the V654A substitution alone and in combination with a t... 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
rs121913521 dbSNP
Genome
hg38
Position
chr4:54,727,447-54,727,447
Variant Type
snv
Reference Allele
T
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
V560D
Transcript 1 (CIViC Variant)
ENST00000288135.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/971
Genome browser