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NM_022552.5(DNMT3A):c.2312G>A (p.Arg771Gln)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 9, 2020)
Last evaluated:
Nov 21, 2017
Accession:
VCV000438287.2
Variation ID:
438287
Description:
single nucleotide variant
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NM_022552.5(DNMT3A):c.2312G>A (p.Arg771Gln)

Allele ID
431903
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p23.3
Genomic location
2: 25240312 (GRCh38) GRCh38 UCSC
2: 25463181 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.25463181C>T
NC_000002.12:g.25240312C>T
NM_022552.5:c.2312G>A MANE Select NP_072046.2:p.Arg771Gln missense
... more HGVS
Protein change
R582Q, R771Q, R619Q, R548Q
Other names
-
Canonical SPDI
NC_000002.12:25240311:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA1555657
dbSNP: rs757823678
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Nov 21, 2017 RCV000624769.1
Likely pathogenic 1 no assertion criteria provided Nov 30, 2016 RCV000505187.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DNMT3A Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
235 257

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 21, 2017)
criteria provided, single submitter
Method: clinical testing
Inborn genetic diseases
Allele origin: germline
Ambry Genetics
Accession: SCV000741691.2
Submitted: (Oct 09, 2020)
Evidence details
Publications
PubMed (2)
Likely pathogenic
(Nov 30, 2016)
no assertion criteria provided
Method: clinical testing
Tatton-Brown-rahman syndrome
Allele origin: de novo
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals
Accession: SCV000599255.1
Submitted: (May 30, 2017)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. Shen W American journal of medical genetics. Part A 2017 PMID: 28941052
Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. Xin B Clinical genetics 2017 PMID: 27701732

Text-mined citations for rs757823678...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 21, 2020