chr4:54733167:A>G 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	chr4:55,599,333-55,599,333 View the variant detail on this assembly version.
hg38	chr4:54,733,167-54,733,167

HGVS

KIT

Type	Transcript	Protein
RefSeq	NM_000222.2:c.2459A>G	NP_000213.1:p.Asp820Gly
	NM_001093772.1:c.2447A>G	NP_001087241.1:p.Asp816Gly
Ensemble	ENST00000288135.6:c.2459A>G	ENST00000288135.6:p.Asp820Gly
	ENST00000412167.7:c.2447A>G	ENST00000412167.7:p.Asp816Gly
	ENST00000686011.1:c.2444A>G	ENST00000686011.1:p.Asp815Gly
	ENST00000687109.1:c.2462A>G	ENST00000687109.1:p.Asp821Gly
	ENST00000687246.1:c.2349+1169A>G
	ENST00000687295.1:c.2447A>G	ENST00000687295.1:p.Asp816Gly
	ENST00000689832.1:c.2459A>G	ENST00000689832.1:p.Asp820Gly
	ENST00000689994.1:c.1949A>G	ENST00000689994.1:p.Asp650Gly
	ENST00000690543.1:c.2450A>G	ENST00000690543.1:p.Asp817Gly
	ENST00000692783.1:c.2456A>G	ENST00000692783.1:p.Asp819Gly

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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	COSM1316	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1997-02-01	no assertion criteria provided	MASTOCYTOSIS, SYSTEMIC, SOMATIC	somatic	Detail
Uncertain significance	2022-08-12	criteria provided, single submitter	gastrointestinal stromal tumor	germline	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
gastrointestinal stromal tumor	Imatinib	C	Predictive	Supports	Resistance	Somatic	3	16954519	Detail

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.281	Mastocytosis, Systemic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
147 patients with advanced, unresectable GISTs were enrolled onto a randomized, phase II clinical st...	CIViC Evidence	Detail
NM_000222.3(KIT):c.2459A>G (p.Asp820Gly) AND MASTOCYTOSIS, SYSTEMIC, SOMATIC	ClinVar	Detail
NM_000222.3(KIT):c.2459A>G (p.Asp820Gly) AND Gastrointestinal stromal tumor	ClinVar	Detail
NA	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: rs121913682 dbSNP
Genome: hg38
Position: chr4:54,733,167-54,733,167
Variant Type: snv
Reference Allele: A
Alternative Allele: G
Variant (CIViC) (CIViC Variant): D820G
Transcript 1 (CIViC Variant): ENST00000288135.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1266

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