chr4:54727437:TGGAAG> 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	chr4:55,593,603-55,593,608
hg38	chr4:54,727,437-54,727,442

HGVS

KIT

Type	Transcript	Protein
RefSeq	NM_000222.2:c.1669_1674delTGGAAG	NP_000213.1:p.Trp557_Lys558del
	NM_001093772.1:c.1660_1665delTGGAAG	NP_001087241.1:p.Trp554_Lys555del
Ensemble	ENST00000288135.6:c.1669_1674delTGGAAG	ENST00000288135.6:p.Trp557_Lys558del
	ENST00000412167.7:c.1660_1665delTGGAAG	ENST00000412167.7:p.Trp554_Lys555del
	ENST00000686011.1:c.1657_1662delTGGAAG	ENST00000686011.1:p.Trp553_Lys554del
	ENST00000687109.1:c.1672_1677delTGGAAG	ENST00000687109.1:p.Trp558_Lys559del
	ENST00000687246.1:c.1657_1662delTGGAAG	ENST00000687246.1:p.Trp553_Lys554del
	ENST00000687295.1:c.1657_1662delTGGAAG	ENST00000687295.1:p.Trp553_Lys554del
	ENST00000689832.1:c.1672_1677delTGGAAG	ENST00000689832.1:p.Trp558_Lys559del
	ENST00000689994.1:c.1159_1164delTGGAAG	ENST00000689994.1:p.Trp387_Lys388del
	ENST00000690543.1:c.1660_1665delTGGAAG	ENST00000690543.1:p.Trp554_Lys555del
	ENST00000692783.1:c.1669_1674delTGGAAG	ENST00000692783.1:p.Trp557_Lys558del

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	COSM1211	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2016-02-25	criteria provided, single submitter	gastrointestinal stromal tumor	unknown	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
cancer	Imatinib	D	Predictive	Does Not Support	Resistance	Somatic	2	14645423	Detail
gastrointestinal stromal tumor	Sunitinib	C	Predictive	Supports	Resistance	Somatic	3	18955458	Detail
gastrointestinal stromal tumor	Imatinib,Ponatinib	D	Predictive	Supports	Sensitivity/Response	Somatic	3	25239608	Detail
gastrointestinal stromal tumor	Sunitinib,Regorafenib	D	Predictive	Supports	Sensitivity/Response	Somatic	2	25239608	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
In an in vitro study of imatinib sensitivity, KIT W557_K558del was cloned into a plasmid by site-dir...	CIViC Evidence	Detail
Patients 11, 69, and 73 from a larger cohort of genotyped patients (n= 78) with imatinib resistant o...	CIViC Evidence	Detail
In an in vitro study, an IL3 independent Ba/F3 cell line expressing KIT W557_K558del primary activat...	CIViC Evidence	Detail
In an in vitro study, an IL3 independent Ba/F3 cell line expressing KIT W557_K558del primary activat...	CIViC Evidence	Detail
NM_000222.3(KIT):c.1669_1674del (p.Trp557_Lys558del) 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: rs869025568 dbSNP
Genome: hg38
Position: chr4:54,727,437-54,727,442
Variant Type: snv
Reference Allele: TGGAAG
Alternative Allele: -
Variant (CIViC) (CIViC Variant): W557_K558DELWK
Transcript 1 (CIViC Variant): ENST00000288135.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/961

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