chr4:54733154: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	chr4:55,599,320-55,599,320 View the variant detail on this assembly version.
hg38	chr4:54,733,154-54,733,154

HGVS

KIT

Type	Transcript	Protein
RefSeq	NM_000222.2:c.2446G>C	NP_000213.1:p.Asp816His
	NM_001093772.1:c.2434G>C	NP_001087241.1:p.Asp812His
Ensemble	ENST00000687246.1:c.2349+1156G>C
	ENST00000687295.1:c.2434G>C	ENST00000687295.1:p.Asp812His
	ENST00000689832.1:c.2446G>C	ENST00000689832.1:p.Asp816His
	ENST00000689994.1:c.1936G>C	ENST00000689994.1:p.Asp646His
	ENST00000690543.1:c.2437G>C	ENST00000690543.1:p.Asp813His
	ENST00000692783.1:c.2443G>C	ENST00000692783.1:p.Asp815His
	ENST00000288135.6:c.2446G>C	ENST00000288135.6:p.Asp816His
	ENST00000412167.7:c.2434G>C	ENST00000412167.7:p.Asp812His
	ENST00000686011.1:c.2431G>C	ENST00000686011.1:p.Asp811His
	ENST00000687109.1:c.2449G>C	ENST00000687109.1:p.Asp817His

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
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	COSM1311	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		t(8;21) acute myeloid leukemia	somatic	MGS000082 (TMGS000165)	Kenjiro Kosaki Kenjiro Kosaki	Keio University Mutation View
Pathogenic		testicular germ cell tumors	somatic	MGS000082 (TMGS000165)	Kenjiro Kosaki Kenjiro Kosaki	Keio University Mutation View

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1999-06-01	no assertion criteria provided	Germ cell tumor of testis	somatic	Detail
Pathogenic	2017-03-29	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2016-05-13	no assertion criteria provided	Hematologic neoplasm	somatic	Detail
Pathogenic	2014-10-02	no assertion criteria provided	melanoma	somatic	Detail
Likely pathogenic	2015-07-14	no assertion criteria provided	gastrointestinal stromal tumor	somatic	Detail
other	2016-05-01	no assertion criteria provided	dysgerminoma	somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
gastrointestinal stromal tumor	Imatinib	C	Predictive	Supports	Resistance	Somatic	3	16954519	Detail

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Xenograft Model	Intermittent and continuous imatinib in a human GIST xenograft model carrying KI...	BeFree	23480638	Detail
0.003	mast cell neoplasm	Mutation at the equivalent position in the murine c-kit gene, involving a substi...	BeFree	8962111	Detail
0.001	Mastocytoma	Mutation at the equivalent position in the murine c-kit gene, involving a substi...	BeFree	8962111	Detail
0.121	Malignant neoplasm of testis	NA	CLINVAR		Detail
0.001	benign mastocytoma	Mutation at the equivalent position in the murine c-kit gene, involving a substi...	BeFree	8962111	Detail
0.126	Leukemia, Mast-Cell	Moreover, ponatinib was highly active against xenografted D816V KIT tumors in nu...	BeFree	24552773	Detail
0.301	Leukemia, Myelocytic, Acute	NA	CLINVAR		Detail
0.760	Gastrointestinal Stromal Tumors	Intermittent and continuous imatinib in a human GIST xenograft model carrying KI...	BeFree	23480638	Detail

Annotation

Annotations

Descrption	Source	Links
147 patients with advanced, unresectable GISTs were enrolled onto a randomized, phase II clinical st...	CIViC Evidence	Detail
NM_000222.3(KIT):c.2446G>C (p.Asp816His) AND Germ cell tumor of testis	ClinVar	Detail
NM_000222.3(KIT):c.2446G>C (p.Asp816His) AND not provided	ClinVar	Detail
NM_000222.3(KIT):c.2446G>C (p.Asp816His) AND Hematologic neoplasm	ClinVar	Detail
NM_000222.3(KIT):c.2446G>C (p.Asp816His) AND Melanoma	ClinVar	Detail
NM_000222.3(KIT):c.2446G>C (p.Asp816His) AND Gastrointestinal stromal tumor	ClinVar	Detail
NM_000222.3(KIT):c.2446G>C (p.Asp816His) AND Dysgerminoma	ClinVar	Detail
Intermittent and continuous imatinib in a human GIST xenograft model carrying KIT exon 17 resistance...	DisGeNET	Detail
Mutation at the equivalent position in the murine c-kit gene, involving a substitution of tyrosine f...	DisGeNET	Detail
Mutation at the equivalent position in the murine c-kit gene, involving a substitution of tyrosine f...	DisGeNET	Detail
NA	DisGeNET	Detail
Mutation at the equivalent position in the murine c-kit gene, involving a substitution of tyrosine f...	DisGeNET	Detail
Moreover, ponatinib was highly active against xenografted D816V KIT tumors in nude mice and signific...	DisGeNET	Detail
NA	DisGeNET	Detail
Intermittent and continuous imatinib in a human GIST xenograft model carrying KIT exon 17 resistance...	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: rs121913506 dbSNP
Genome: hg38
Position: chr4:54,733,154-54,733,154
Variant Type: snv
Reference Allele: G
Alternative Allele: C
Variant (CIViC) (CIViC Variant): D816H
Transcript 1 (CIViC Variant): ENST00000288135.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/983

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