chr4:55599340:T>G 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	chr4:55,599,340-55,599,340
hg38	chr4:54,733,174-54,733,174 View the variant detail on this assembly version.

HGVS

KIT

Type	Transcript	Protein
RefSeq	NM_000222.2:c.2466T>G	NP_000213.1:p.Asn822Lys
	NM_001093772.1:c.2454T>G	NP_001087241.1:p.Asn818Lys
Ensemble	ENST00000288135.6:c.2466T>G	ENST00000288135.6:p.Asn822Lys
	ENST00000412167.7:c.2454T>G	ENST00000412167.7:p.Asn818Lys
	ENST00000686011.1:c.2451T>G	ENST00000686011.1:p.Asn817Lys
	ENST00000687109.1:c.2469T>G	ENST00000687109.1:p.Asn823Lys
	ENST00000687246.1:c.2349+1176T>G
	ENST00000687295.1:c.2454T>G	ENST00000687295.1:p.Asn818Lys
	ENST00000689832.1:c.2466T>G	ENST00000689832.1:p.Asn822Lys
	ENST00000689994.1:c.1956T>G	ENST00000689994.1:p.Asn652Lys
	ENST00000690543.1:c.2457T>G	ENST00000690543.1:p.Asn819Lys
	ENST00000692783.1:c.2463T>G	ENST00000692783.1:p.Asn821Lys

Summary

MGeND

Clinical significance	not provided
Variant entry	5
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	COSM1322	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided		Acute myeloblastic leukaemia	somatic	MGS000005 (TMGS000006)	Keizo Horibe	National Hospital Organization Nagoya Medical Center

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-10-15	criteria provided, single submitter	gastrointestinal stromal tumor	somatic germline	Detail
Pathogenic	2014-10-02	no assertion criteria provided	melanoma	somatic	Detail
Likely pathogenic	2014-12-26	no assertion criteria provided	acute myeloid leukemia	somatic	Detail
Pathogenic	2015-01-08	criteria provided, single submitter	not provided	unknown	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
gastrointestinal stromal tumor	Regorafenib	C	Predictive	Supports	Sensitivity/Response	Somatic	2	22614970	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
This retrospective study of a phase 2 clinical trial (NCT01068769) examined regorafenib safety and e...	CIViC Evidence	Detail
NM_000222.3(KIT):c.2466T>G (p.Asn822Lys) AND Gastrointestinal stromal tumor	ClinVar	Detail
NM_000222.3(KIT):c.2466T>G (p.Asn822Lys) AND Melanoma	ClinVar	Detail
NM_000222.3(KIT):c.2466T>G (p.Asn822Lys) AND Acute myeloid leukemia	ClinVar	Detail
NM_000222.3(KIT):c.2466T>G (p.Asn822Lys) 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: rs121913514 dbSNP
Genome: hg19
Position: chr4:55,599,340-55,599,340
Variant Type: snv
Reference Allele: T
Alternative Allele: G
Variant (CIViC) (CIViC Variant): N822K
Transcript 1 (CIViC Variant): ENST00000288135.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1403

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