chr4:54727503:GAT> 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	chr4:55,593,669-55,593,671
hg38	chr4:54,727,503-54,727,505

HGVS

KIT

Type	Transcript	Protein
RefSeq	NM_000222.2:c.1735_1737delGAT	NP_000213.1:p.Asp579del
	NM_001093772.1:c.1726_1728delGAT	NP_001087241.1:p.Asp576del
Ensemble	ENST00000288135.6:c.1735_1737delGAT	ENST00000288135.6:p.Asp579del
	ENST00000412167.7:c.1726_1728delGAT	ENST00000412167.7:p.Asp576del
	ENST00000686011.1:c.1723_1725delGAT	ENST00000686011.1:p.Asp575del
	ENST00000687109.1:c.1738_1740delGAT	ENST00000687109.1:p.Asp580del
	ENST00000687246.1:c.1723_1725delGAT	ENST00000687246.1:p.Asp575del
	ENST00000687295.1:c.1723_1725delGAT	ENST00000687295.1:p.Asp575del
	ENST00000689832.1:c.1738_1740delGAT	ENST00000689832.1:p.Asp580del
	ENST00000689994.1:c.1225_1227delGAT	ENST00000689994.1:p.Asp409del
	ENST00000690543.1:c.1726_1728delGAT	ENST00000690543.1:p.Asp576del
	ENST00000692783.1:c.1735_1737delGAT	ENST00000692783.1:p.Asp579del

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
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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	COSM255168	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-10-09	criteria provided, single submitter	gastrointestinal stromal tumor	germline	Detail
Pathogenic	2021-02-23	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2022-08-09	criteria provided, single submitter	not provided	germline	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
gastrointestinal stromal tumor	Imatinib	C	Predictive	Supports	Sensitivity/Response	Somatic	3	14645423	Detail
gastrointestinal stromal tumor	Sunitinib	C	Predictive	Supports	Resistance	Somatic	2	18955458	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
This prospective study of 127 patients with metastatic gastrointestinal stromal tumors (GISTs) exami...	CIViC Evidence	Detail
Patient 74 from a larger cohort of genotyped patients (n= 78) with imatinib resistant or intolerant ...	CIViC Evidence	Detail
NM_000222.3(KIT):c.1735_1737del (p.Asp579del) AND Gastrointestinal stromal tumor	ClinVar	Detail
NM_000222.3(KIT):c.1735_1737del (p.Asp579del) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000222.3(KIT):c.1735_1737del (p.Asp579del) AND not provided	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: rs1060502543 dbSNP
Genome: hg38
Position: chr4:54,727,503-54,727,505
Variant Type: snv
Reference Allele: GAT
Alternative Allele: -
Variant (CIViC) (CIViC Variant): D579DEL
Transcript 1 (CIViC Variant): ENST00000288135.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/977

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