chr4:54727462:G>T 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	chr4:55,593,628-55,593,628 View the variant detail on this assembly version.
hg38	chr4:54,727,462-54,727,462

HGVS

KIT

Type	Transcript	Protein
RefSeq	NM_000222.2:c.1694G>T	NP_000213.1:p.Gly565Val
	NM_001093772.1:c.1685G>T	NP_001087241.1:p.Gly562Val
Ensemble	ENST00000288135.6:c.1694G>T	ENST00000288135.6:p.Gly565Val
	ENST00000412167.7:c.1685G>T	ENST00000412167.7:p.Gly562Val
	ENST00000686011.1:c.1682G>T	ENST00000686011.1:p.Gly561Val
	ENST00000687109.1:c.1697G>T	ENST00000687109.1:p.Gly566Val
	ENST00000687246.1:c.1682G>T	ENST00000687246.1:p.Gly561Val
	ENST00000687295.1:c.1682G>T	ENST00000687295.1:p.Gly561Val
	ENST00000689832.1:c.1697G>T	ENST00000689832.1:p.Gly566Val
	ENST00000689994.1:c.1184G>T	ENST00000689994.1:p.Gly395Val
	ENST00000690543.1:c.1685G>T	ENST00000690543.1:p.Gly562Val
	ENST00000692783.1:c.1694G>T	ENST00000692783.1:p.Gly565Val

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
Show details

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	COSM144514	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2023-03-15	criteria provided, single submitter	not provided	germline unknown	Detail
Conflicting interpretations of pathogenicity	2023-02-16	criteria provided, conflicting interpretations	Hereditary cancer-predisposing syndrome	germline	Detail
Conflicting interpretations of pathogenicity	2024-02-01	criteria provided, conflicting interpretations	gastrointestinal stromal tumor	germline maternal	Detail
Benign	2017-04-27	criteria provided, single submitter	mastocytosis	germline	Detail
Uncertain significance	2017-04-27	criteria provided, single submitter	piebaldism	germline	Detail
Likely benign	2023-05-23	criteria provided, single submitter	KIT-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.126	Leukemia, Mast-Cell	Ponatinib was found to inhibit the kinase activity of KIT G560V and KIT D816V in...	BeFree	23539538	Detail
0.446	Leukemia, Myelocytic, Acute	We describe a patient with acute myeloid leukemia (AML) who had a normal karyoty...	BeFree	24968822	Detail
0.560	Leukemia, Myelocytic, Acute	We describe a patient with acute myeloid leukemia (AML) who had a normal karyoty...	BeFree	24968822	Detail
0.301	Leukemia, Myelocytic, Acute	We describe a patient with acute myeloid leukemia (AML) who had a normal karyoty...	BeFree	24968822	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000222.3(KIT):c.1694G>T (p.Gly565Val) AND not provided	ClinVar	Detail
NM_000222.3(KIT):c.1694G>T (p.Gly565Val) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000222.3(KIT):c.1694G>T (p.Gly565Val) AND Gastrointestinal stromal tumor	ClinVar	Detail
NM_000222.3(KIT):c.1694G>T (p.Gly565Val) AND Mastocytosis	ClinVar	Detail
NM_000222.3(KIT):c.1694G>T (p.Gly565Val) AND Piebaldism	ClinVar	Detail
NM_000222.3(KIT):c.1694G>T (p.Gly565Val) AND KIT-related disorder	ClinVar	Detail
Ponatinib was found to inhibit the kinase activity of KIT G560V and KIT D816V in the human mast cell...	DisGeNET	Detail
We describe a patient with acute myeloid leukemia (AML) who had a normal karyotype at diagnosis and ...	DisGeNET	Detail
We describe a patient with acute myeloid leukemia (AML) who had a normal karyotype at diagnosis and ...	DisGeNET	Detail
We describe a patient with acute myeloid leukemia (AML) who had a normal karyotype at diagnosis and ...	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: rs200945282 dbSNP
Genome: hg38
Position: chr4:54,727,462-54,727,462
Variant Type: snv
Reference Allele: G
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8634
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121234
Allele Counts in All Race (ExAC): 16
Heterozygous Counts in All Race (ExAC): 16
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.3197617829981687E-4

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