chr2:25466800:G>A Detail (hg19) (DNMT3A)

Information

Genome

Assembly Position
hg19 chr2:25,466,800-25,466,800
hg38 chr2:25,243,931-25,243,931 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_175629.2:c.1903C>T NP_783328.1:p.Arg635Trp
NM_022552.4:c.1903C>T NP_072046.2:p.Arg635Trp
NM_153759.3:c.1336C>T NP_715640.2:p.Arg446Trp
Summary

MGeND

Clinical significance Likely pathogenic not provided
Variant entry 4
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
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 COSM87012 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic 2020/04/20 descending colon not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Likely pathogenic 2020/04/20 ill-defined sites within the digestive system not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Likely pathogenic 2020/04/20 bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
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
Uncertain significance 2021-08-31 criteria provided, single submitter Tatton-Brown-Rahman overgrowth syndrome germline Detail
Pathogenic Likely pathogenic 2021-08-30 criteria provided, multiple submitters, no conflicts not provided germline Detail
not provided no assertion provided autism spectrum disorder,Tatton-Brown-Rahman overgrowth syndrome de novo Detail
not provided no assertion provided autism spectrum disorder,Tatton-Brown-Rahman overgrowth syndrome de novo Detail
Likely pathogenic criteria provided, single submitter Tatton-Brown-Rahman overgrowth syndrome,acute myeloid leukemia,Heyn-Sproul-Jackson syndrome de novo Detail
Likely pathogenic criteria provided, single submitter Tatton-Brown-Rahman overgrowth syndrome,acute myeloid leukemia,Heyn-Sproul-Jackson syndrome de novo Detail
Likely pathogenic criteria provided, single submitter Tatton-Brown-Rahman overgrowth syndrome,acute myeloid leukemia,Heyn-Sproul-Jackson syndrome de novo Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp) AND Tatton-Brown-Rahman overgrowth syndrome ClinVar Detail
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp) AND not provided ClinVar Detail
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp) AND multiple conditions ClinVar Detail
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp) AND multiple conditions ClinVar Detail
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp) AND multiple conditions ClinVar Detail
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp) AND multiple conditions ClinVar Detail
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp) AND multiple conditions 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
rs144689354 dbSNP
Genome
hg19
Position
chr2:25,466,800-25,466,800
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
802
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)
20996
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
9.525623928367309E-5
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