chr2:25457242:C>A Detail (hg19) (DNMT3A)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr2:25,457,242-25,457,242
hg38	chr2:25,234,373-25,234,373 View the variant detail on this assembly version.

HGVS

DNMT3A

Type	Transcript	Protein
RefSeq	NM_001320893.1:c.1976G>T	NP_001307822.1:p.Arg659Leu
	NM_175629.2:c.2645G>T	NP_783328.1:p.Arg882Leu
	NM_022552.4:c.2645G>T	NP_072046.2:p.Arg882Leu
	NM_153759.3:c.2078G>T	NP_715640.2:p.Arg693Leu
Ensemble	ENST00000402667.1:c.1976G>T	ENST00000402667.1:p.Arg659Leu
	ENST00000683760.1:c.1976G>T	ENST00000683760.1:p.Arg659Leu
	ENST00000264709.7:c.2645G>T	ENST00000264709.7:p.Arg882Leu
	ENST00000321117.10:c.2645G>T	ENST00000321117.10:p.Arg882Leu
	ENST00000380746.8:c.2078G>T	ENST00000380746.8:p.Arg693Leu

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	Pathogenic
Review star
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Links

DNMT3A

Type	Database	ID	Link
Gene	MIM	602769	OMIM
	HGNC	2978	HGNC
	Ensembl	ENSG00000119772	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM1583129	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2014-10-02	no assertion criteria provided	acute myeloid leukemia	somatic	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.560	Leukemia, Myelocytic, Acute	To determine whether mutant IDH enzymes are valid targets for cancer therapy, we...	BeFree	25795706	Detail
0.018	Leukemia, Myelocytic, Acute	To determine whether mutant IDH enzymes are valid targets for cancer therapy, we...	BeFree	25795706	Detail
0.018	Leukemia, Myelocytic, Acute	The R882H DNMT3A mutation associated with AML dominantly inhibits wild-type DNMT...	BeFree	24656771	Detail
0.001	Leukemogenesis	Moreover, DNMT3A-R882H increased the CDK1 protein level and enhanced cell-cycle ...	BeFree	24497509	Detail

Annotation

Annotations

Descrption	Source	Links
NM_022552.5(DNMT3A):c.2645G>T (p.Arg882Leu) AND Acute myeloid leukemia	ClinVar	Detail
To determine whether mutant IDH enzymes are valid targets for cancer therapy, we created a mouse mod...	DisGeNET	Detail
To determine whether mutant IDH enzymes are valid targets for cancer therapy, we created a mouse mod...	DisGeNET	Detail
The R882H DNMT3A mutation associated with AML dominantly inhibits wild-type DNMT3A by blocking its a...	DisGeNET	Detail
Moreover, DNMT3A-R882H increased the CDK1 protein level and enhanced cell-cycle activity, thereby co...	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: rs147001633 dbSNP
Genome: hg19
Position: chr2:25,457,242-25,457,242
Variant Type: snv
Reference Allele: C
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8648
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): 121122
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.256138438929344E-6

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