chr4:54728055: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	chr4:55,594,221-55,594,221 View the variant detail on this assembly version.
hg38	chr4:54,728,055-54,728,055

HGVS

KIT

Type	Transcript	Protein
RefSeq	NM_000222.2:c.1924A>G	NP_000213.1:p.Lys642Glu
	NM_001093772.1:c.1915A>G	NP_001087241.1:p.Lys639Glu
Ensemble	ENST00000288135.6:c.1924A>G	ENST00000288135.6:p.Lys642Glu
	ENST00000412167.7:c.1915A>G	ENST00000412167.7:p.Lys639Glu
	ENST00000686011.1:c.1912A>G	ENST00000686011.1:p.Lys638Glu
	ENST00000687109.1:c.1927A>G	ENST00000687109.1:p.Lys643Glu
	ENST00000687246.1:c.1912A>G	ENST00000687246.1:p.Lys638Glu
	ENST00000687295.1:c.1912A>G	ENST00000687295.1:p.Lys638Glu
	ENST00000689832.1:c.1927A>G	ENST00000689832.1:p.Lys643Glu
	ENST00000689994.1:c.1414A>G	ENST00000689994.1:p.Lys472Glu
	ENST00000690543.1:c.1915A>G	ENST00000690543.1:p.Lys639Glu
	ENST00000692783.1:c.1924A>G	ENST00000692783.1:p.Lys642Glu

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	COSM1304	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	unknown	MGS000082 (TMGS000165)	Kenjiro Kosaki Kenjiro Kosaki	Keio University Mutation View

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2000-11-01	no assertion criteria provided	Gastrointestinal stromal tumor, familial	germline	Detail
Pathogenic	2021-04-14	criteria provided, single submitter	gastrointestinal stromal tumor	germline somatic	Detail
Likely pathogenic	2014-10-02	no assertion criteria provided	melanoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Malignant melanoma of skin	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	gastric adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-13	no assertion criteria provided	Hematologic neoplasm	somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
cancer	Imatinib	D	Predictive	Does Not Support	Resistance	Somatic	2	14645423	Detail
mucosal melanoma	Imatinib	C	Predictive	Supports	Sensitivity/Response	Somatic	2	18510589	Detail
melanoma	Dasatinib	C	Predictive	Supports	Sensitivity/Response	Somatic		21523734	Detail
gastrointestinal stromal tumor	Ponatinib,Sunitinib	D	Predictive	Supports	Sensitivity/Response	Somatic	3	25239608	Detail

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.760	Gastrointestinal Stromal Tumors	Imatinib in the management of multiple gastrointestinal stromal tumors associate...	BeFree	17824795	Detail
0.068	melanoma	However, Sanger sequencing of KIT exons 9, 11, 13, and 17, performed as screenin...	BeFree	23940219	Detail

Annotation

Annotations

Descrption	Source	Links
In an in vitro study of imatinib sensitivity, KIT K642E was cloned into a plasmid by site-directed m...	CIViC Evidence	Detail
A 69 y.o. woman presented with metastatic mucosal melanoma of the anus. KIT was amplified in the tum...	CIViC Evidence	Detail
In a phase 2 clinical trial of 39 stage 3/4 chemotherapy-naive unresectable melanoma patients, a sub...	CIViC Evidence	Detail
The GIST882 patient derived cell line expressing KIT K642E mutation demonstrated sensitivity to pona...	CIViC Evidence	Detail
NM_000222.3(KIT):c.1924A>G (p.Lys642Glu) AND Gastrointestinal stromal tumor, familial	ClinVar	Detail
NM_000222.3(KIT):c.1924A>G (p.Lys642Glu) AND Gastrointestinal stromal tumor	ClinVar	Detail
NM_000222.3(KIT):c.1924A>G (p.Lys642Glu) AND Melanoma	ClinVar	Detail
NM_000222.3(KIT):c.1924A>G (p.Lys642Glu) AND Malignant melanoma of skin	ClinVar	Detail
NM_000222.3(KIT):c.1924A>G (p.Lys642Glu) AND Gastric adenocarcinoma	ClinVar	Detail
NM_000222.3(KIT):c.1924A>G (p.Lys642Glu) AND Hematologic neoplasm	ClinVar	Detail
Imatinib in the management of multiple gastrointestinal stromal tumors associated with a germline KI...	DisGeNET	Detail
However, Sanger sequencing of KIT exons 9, 11, 13, and 17, performed as screening for a clinical tri...	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: rs121913512 dbSNP
Genome: hg38
Position: chr4:54,728,055-54,728,055
Variant Type: snv
Reference Allele: A
Alternative Allele: G
Variant (CIViC) (CIViC Variant): K642E
Transcript 1 (CIViC Variant): ENST00000288135.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/978

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