chr4:54733166:G>T Detail (hg38) (KIT)

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

Genome

Assembly	Position
hg19	chr4:55,599,332-55,599,332 View the variant detail on this assembly version.
hg38	chr4:54,733,166-54,733,166

HGVS

KIT

Type	Transcript	Protein
RefSeq	NM_000222.2:c.2458G>T	NP_000213.1:p.Asp820Tyr
	NM_001093772.1:c.2446G>T	NP_001087241.1:p.Asp816Tyr
Ensemble	ENST00000288135.6:c.2458G>T	ENST00000288135.6:p.Asp820Tyr
	ENST00000412167.7:c.2446G>T	ENST00000412167.7:p.Asp816Tyr
	ENST00000686011.1:c.2443G>T	ENST00000686011.1:p.Asp815Tyr
	ENST00000687109.1:c.2461G>T	ENST00000687109.1:p.Asp821Tyr
	ENST00000687246.1:c.2349+1168G>T
	ENST00000687295.1:c.2446G>T	ENST00000687295.1:p.Asp816Tyr
	ENST00000689832.1:c.2458G>T	ENST00000689832.1:p.Asp820Tyr
	ENST00000689994.1:c.1948G>T	ENST00000689994.1:p.Asp650Tyr
	ENST00000690543.1:c.2449G>T	ENST00000690543.1:p.Asp817Tyr
	ENST00000692783.1:c.2455G>T	ENST00000692783.1:p.Asp819Tyr

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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	COSM12710	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000082 (TMGS000165)	Kenjiro Kosaki Kenjiro Kosaki	Keio University Mutation View

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2014-10-02	no assertion criteria provided	melanoma	somatic	Detail
Pathogenic	2023-11-23	criteria provided, single submitter	gastrointestinal stromal tumor	germline	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
melanoma	Imatinib	C	Predictive	Supports	Resistance	Somatic	3	21642685	Detail
melanoma	Sunitinib	D	Predictive	Supports		Somatic	2	19035443	Detail
gastrointestinal stromal tumor	Regorafenib	C	Predictive	Supports	Sensitivity/Response	Somatic	2	22614970	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
FFPE tumor specimens from 295 melanoma patients were screened for KIT amplification and mutation. Of...	CIViC Evidence	Detail
28 acral or mucosal melanomas were examined for KIT expression and mutations (exons 11, 13, 17, and ...	CIViC Evidence	Detail
This retrospective study of a phase 2 clinical trial (NCT01068769) examined regorafenib safety and e...	CIViC Evidence	Detail
NM_000222.3(KIT):c.2458G>T (p.Asp820Tyr) AND Melanoma	ClinVar	Detail
NM_000222.3(KIT):c.2458G>T (p.Asp820Tyr) AND Gastrointestinal stromal tumor	ClinVar	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: rs1057519710 dbSNP
Genome: hg38
Position: chr4:54,733,166-54,733,166
Variant Type: snv
Reference Allele: G
Alternative Allele: T
Variant (CIViC) (CIViC Variant): D820Y
Transcript 1 (CIViC Variant): ENST00000288135.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/986

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