chr4:54727444:T>C Detail (hg38) (KIT)

Information

Genome

Assembly Position
hg19 chr4:55,593,610-55,593,610 View the variant detail on this assembly version.
hg38 chr4:54,727,444-54,727,444

HGVS

Type Transcript Protein
RefSeq NM_000222.2:c.1676T>C NP_000213.1:p.Val559Ala
NM_001093772.1:c.1667T>C NP_001087241.1:p.Val556Ala
Ensemble ENST00000288135.6:c.1676T>C ENST00000288135.6:p.Val559Ala
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 COSM1255 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other somatic MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2001-08-01 no assertion criteria provided Gastrointestinal stromal tumor, familial germline Detail
Pathogenic 2014-10-02 no assertion criteria provided thymoma somatic Detail
Likely pathogenic 2016-05-13 no assertion criteria provided gastrointestinal stromal tumor somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided melanoma somatic Detail
Pathogenic 2001-08-01 no assertion criteria provided cutaneous mastocytosis germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.760 Gastrointestinal Stromal Tumors NA CLINVAR 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
<0.001 Gastrointestinal Neoplasms The KIT/FLT3 inhibitor SU-11248 potently inhibits the imatinib-resistant KIT(V55... BeFree 16046538 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
NM_000222.3(KIT):c.1676T>C (p.Val559Ala) AND Gastrointestinal stromal tumor, familial ClinVar Detail
NM_000222.3(KIT):c.1676T>C (p.Val559Ala) AND Thymoma ClinVar Detail
NM_000222.3(KIT):c.1676T>C (p.Val559Ala) AND Gastrointestinal stromal tumor ClinVar Detail
NM_000222.3(KIT):c.1676T>C (p.Val559Ala) AND Melanoma ClinVar Detail
NM_000222.3(KIT):c.1676T>C (p.Val559Ala) AND Cutaneous mastocytosis ClinVar Detail
NA 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
The KIT/FLT3 inhibitor SU-11248 potently inhibits the imatinib-resistant KIT(V559D/T670I) kinase, co... 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
rs121913517 dbSNP
Genome
hg38
Position
chr4:54,727,444-54,727,444
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
V559A
Transcript 1 (CIViC Variant)
ENST00000288135.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/969
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