chr4:55593610:T>A Detail (hg19) (KIT)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

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

HGVS

KIT

Type	Transcript	Protein
RefSeq	NM_000222.2:c.1676T>A	NP_000213.1:p.Val559Asp
	NM_001093772.1:c.1667T>A	NP_001087241.1:p.Val556Asp
Ensemble	ENST00000288135.6:c.1676T>A	ENST00000288135.6:p.Val559Asp
	ENST00000412167.7:c.1667T>A	ENST00000412167.7:p.Val556Asp
	ENST00000686011.1:c.1664T>A	ENST00000686011.1:p.Val555Asp
	ENST00000687109.1:c.1679T>A	ENST00000687109.1:p.Val560Asp
	ENST00000687246.1:c.1664T>A	ENST00000687246.1:p.Val555Asp
	ENST00000687295.1:c.1664T>A	ENST00000687295.1:p.Val555Asp
	ENST00000689832.1:c.1679T>A	ENST00000689832.1:p.Val560Asp
	ENST00000689994.1:c.1166T>A	ENST00000689994.1:p.Val389Asp
	ENST00000690543.1:c.1667T>A	ENST00000690543.1:p.Val556Asp
	ENST00000692783.1:c.1676T>A	ENST00000692783.1:p.Val559Asp

Summary

MGeND

Clinical significance	not provided
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

KIT

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	COSM1252	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		jejunum	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2016-05-13	no assertion criteria provided	gastrointestinal stromal tumor	somatic	Detail
Pathogenic	2015-07-14	no assertion criteria provided	melanoma	somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
gastrointestinal stromal tumor	Imatinib	C	Predictive	Supports	Sensitivity/Response	Somatic	3	22114577	Detail
cancer	Tandutinib,PD-180970,Sunitinib,Dasatinib,Imatinib	D	Predictive	Supports	Sensitivity/Response	Somatic	2	16046538	Detail
gastrointestinal stromal tumor	Regorafenib,Ponatinib,Imatinib	D	Predictive	Supports	Sensitivity/Response	Somatic	2	25239608	Detail

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

Descrption	Source	Links
A patient with an uncontrolled relapse of c-kit-positive mesenchymal tumor in descending part of the...	CIViC Evidence	Detail
KIT(V559D) were expressed in HEK-293 cells (in vitro). Imatinib, BMS-354825, PD-180970, MLN-518, and...	CIViC Evidence	Detail
In an in vitro kinase study, a KIT V559D primary activating mutant kinase demonstrated sensitivity t...	CIViC Evidence	Detail
NM_000222.3(KIT):c.1676T>A (p.Val559Asp) AND Gastrointestinal stromal tumor	ClinVar	Detail
NM_000222.3(KIT):c.1676T>A (p.Val559Asp) AND Melanoma	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: hg19
Position: chr4:55,593,610-55,593,610
Variant Type: snv
Reference Allele: T
Alternative Allele: A
Variant (CIViC) (CIViC Variant): V559D
Transcript 1 (CIViC Variant): ENST00000288135.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/968

Genome browser