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NM_022552.5(DNMT3A):c.2525A>G (p.Gln842Arg)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 17, 2018)
Last evaluated:
Sep 4, 2017
Accession:
VCV000620042.1
Variation ID:
620042
Description:
single nucleotide variant
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NM_022552.5(DNMT3A):c.2525A>G (p.Gln842Arg)

Allele ID
611383
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p23.3
Genomic location
2: 25235779 (GRCh38) GRCh38 UCSC
2: 25458648 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.25458648T>C
NC_000002.12:g.25235779T>C
NM_022552.5:c.2525A>G MANE Select NP_072046.2:p.Gln842Arg missense
... more HGVS
Protein change
Q653R, Q842R, Q690R, Q619R
Other names
-
Canonical SPDI
NC_000002.12:25235778:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
Links
dbSNP: rs771174392
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Sep 4, 2017 RCV000760250.1
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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
Likely pathogenic
(Sep 04, 2017)
criteria provided, single submitter
Method: clinical testing
Acute myeloid leukemia
Tatton-Brown-rahman syndrome
(Autosomal dominant inheritance)
Allele origin: de novo
Génétique des Maladies du Développement, Hospices Civils de Lyon
Accession: SCV000890085.1
Submitted: (Oct 17, 2018)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs771174392...

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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 Jul 24, 2021