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

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

Type Transcript Protein
RefSeq NM_001320893.1:c.1976G>C NP_001307822.1:p.Arg659Pro
NM_022552.4:c.2645G>C NP_072046.2:p.Arg882Pro
NM_153759.3:c.2078G>C NP_715640.2:p.Arg693Pro
Summary

MGeND

Clinical significance not provided
Variant entry 1
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 Likely pathogenic
Review star
Show details
Links
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 COSM3356083 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided Myelodysplastic syndromes somatic MGS000005
(TMGS000006) 		Keizo Horibe National Hospital Organization Nagoya Medical Center
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided myelodysplastic syndrome somatic Detail
Pathogenic 2016-05-31 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

DescrptionSourceLinks
NM_022552.5(DNMT3A):c.2645G>C (p.Arg882Pro) AND Lung adenocarcinoma ClinVar Detail
NM_022552.5(DNMT3A):c.2645G>C (p.Arg882Pro) AND Myelodysplastic syndrome ClinVar Detail
NM_022552.5(DNMT3A):c.2645G>C (p.Arg882Pro) 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
G
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1563367252543941E-4
Chromosome Counts in All Race (ExAC)
121122
Allele Counts in All Race (ExAC)
7
Heterozygous Counts in All Race (ExAC)
7
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.7792969072505406E-5
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