chr4:55594180:G>A Detail (hg19) (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	chr4:55,594,180-55,594,180
hg38	chr4:54,728,014-54,728,014 View the variant detail on this assembly version.

HGVS

KIT

Type	Transcript	Protein
RefSeq	NM_000222.2:c.1883G>A	NP_000213.1:p.Ser628Asn
	NM_001093772.1:c.1874G>A	NP_001087241.1:p.Ser625Asn
Ensemble	ENST00000288135.6:c.1883G>A	ENST00000288135.6:p.Ser628Asn
	ENST00000412167.7:c.1874G>A	ENST00000412167.7:p.Ser625Asn
	ENST00000686011.1:c.1871G>A	ENST00000686011.1:p.Ser624Asn
	ENST00000687109.1:c.1886G>A	ENST00000687109.1:p.Ser629Asn
	ENST00000687246.1:c.1871G>A	ENST00000687246.1:p.Ser624Asn
	ENST00000687295.1:c.1871G>A	ENST00000687295.1:p.Ser624Asn
	ENST00000689832.1:c.1886G>A	ENST00000689832.1:p.Ser629Asn
	ENST00000689994.1:c.1373G>A	ENST00000689994.1:p.Ser458Asn
	ENST00000690543.1:c.1874G>A	ENST00000690543.1:p.Ser625Asn
	ENST00000692783.1:c.1883G>A	ENST00000692783.1:p.Ser628Asn

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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	COSM5702513	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2021-09-08	criteria provided, single submitter	gastrointestinal stromal tumor	germline	Detail
Uncertain significance	2023-06-15	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
cancer	Dasatinib,Imatinib	D	Predictive	Supports	Sensitivity/Response	Somatic	2	25317746	Detail
melanoma	Imatinib	C	Predictive	Does Not Support	Sensitivity/Response	Somatic	3	25317746	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
In an in vitro study, COS-7 cells expressing KIT S628N activating mutation demonstrated sensitivity ...	CIViC Evidence	Detail
A melanoma patient harboring the KIT S628N activating mutation underwent second-line imatinib therap...	CIViC Evidence	Detail
NM_000222.3(KIT):c.1883G>A (p.Ser628Asn) AND Gastrointestinal stromal tumor	ClinVar	Detail
NM_000222.3(KIT):c.1883G>A (p.Ser628Asn) AND Hereditary cancer-predisposing syndrome	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: rs2109781181 dbSNP
Genome: hg19
Position: chr4:55,594,180-55,594,180
Variant Type: snv
Reference Allele: G
Alternative Allele: A
Variant (CIViC) (CIViC Variant): S628N
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1659

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