chr4:54736498:G>C 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	chr4:55,602,664-55,602,664 View the variant detail on this assembly version.
hg38	chr4:54,736,498-54,736,498

HGVS

KIT

Type	Transcript	Protein
RefSeq	NM_000222.2:c.2485G>C	NP_000213.1:p.Ala829Pro
	NM_001093772.1:c.2473G>C	NP_001087241.1:p.Ala825Pro
Ensemble	ENST00000288135.6:c.2485G>C	ENST00000288135.6:p.Ala829Pro
	ENST00000412167.7:c.2473G>C	ENST00000412167.7:p.Ala825Pro
	ENST00000686011.1:c.2470G>C	ENST00000686011.1:p.Ala824Pro
	ENST00000687109.1:c.2488G>C	ENST00000687109.1:p.Ala830Pro
	ENST00000687246.1:c.2350G>C	ENST00000687246.1:p.Ala784Pro
	ENST00000687295.1:c.2473G>C	ENST00000687295.1:p.Ala825Pro
	ENST00000689832.1:c.2485G>C	ENST00000689832.1:p.Ala829Pro
	ENST00000689994.1:c.1975G>C	ENST00000689994.1:p.Ala659Pro
	ENST00000690543.1:c.2476G>C	ENST00000690543.1:p.Ala826Pro
	ENST00000692783.1:c.2482G>C	ENST00000692783.1:p.Ala828Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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	COSM13172	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2014-10-02	no assertion criteria provided	melanoma	somatic	Detail
Likely pathogenic	2023-01-05	criteria provided, single submitter	gastrointestinal stromal tumor	germline somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
gastrointestinal stromal tumor	Ponatinib	D	Predictive	Does Not Support	Resistance	Somatic	4	25239608	Detail
gastrointestinal stromal tumor	Sunitinib,Imatinib	D	Predictive	Supports	Resistance	Somatic	4	25239608	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
Ponatinib possesses potent activity against A829P KIT mutant cells in preclinical experiments. A pre...	CIViC Evidence	Detail
Several preclinical studies tested the effects of various tyrosine kinase inhibitors (TKIs) on Ba/F3...	CIViC Evidence	Detail
NM_000222.3(KIT):c.2485G>C (p.Ala829Pro) AND Melanoma	ClinVar	Detail
NM_000222.3(KIT):c.2485G>C (p.Ala829Pro) 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: rs1057519713 dbSNP
Genome: hg38
Position: chr4:54,736,498-54,736,498
Variant Type: snv
Reference Allele: G
Alternative Allele: C
Variant (CIViC) (CIViC Variant): A829P
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/990

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