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

Clinical significance:Likely pathogenic (Last evaluated: Sep 4, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000760250.1

Allele description [Variation Report for NM_022552.5(DNMT3A):c.2525A>G (p.Gln842Arg)]

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

Gene:
DNMT3A:DNA methyltransferase 3 alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_022552.5(DNMT3A):c.2525A>G (p.Gln842Arg)
HGVS:
  • NC_000002.12:g.25235779T>C
  • NG_029465.2:g.111812A>G
  • NM_001320893.1:c.2069A>G
  • NM_001375819.1:c.1856A>G
  • NM_022552.5:c.2525A>GMANE SELECT
  • NM_153759.3:c.1958A>G
  • NM_175629.2:c.2525A>G
  • NP_001307822.1:p.Gln690Arg
  • NP_001362748.1:p.Gln619Arg
  • NP_072046.2:p.Gln842Arg
  • NP_715640.2:p.Gln653Arg
  • NP_783328.1:p.Gln842Arg
  • LRG_459t2:c.1958A>G
  • LRG_459t4:c.2525A>G
  • LRG_459:g.111812A>G
  • LRG_459p2:p.Gln653Arg
  • LRG_459p4:p.Gln842Arg
  • NC_000002.11:g.25458648T>C
  • NR_135490.2:n.2955A>G
Protein change:
Q619R
Links:
dbSNP: rs771174392
NCBI 1000 Genomes Browser:
rs771174392
Molecular consequence:
  • NM_001320893.1:c.2069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375819.1:c.1856A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022552.5:c.2525A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153759.3:c.1958A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_175629.2:c.2525A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_135490.2:n.2955A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Acute myeloid leukemia (AML)
Synonyms:
Acute myeloid leukemia, adult; AML adult; Acute myelogenous leukemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018874; MeSH: D015470; MedGen: C0023467; Orphanet: 519; OMIM: 601626; Human Phenotype Ontology: HP:0004808
Name:
Tatton-Brown-rahman syndrome (TBRS)
Identifiers:
MONDO: MONDO:0014382; MedGen: C4014545; Orphanet: 404443; OMIM: 615879

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000890085Génétique des Maladies du Développement, Hospices Civils de Lyoncriteria provided, single submitter
Likely pathogenic
(Sep 4, 2017)
de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Génétique des Maladies du Développement, Hospices Civils de Lyon, SCV000890085.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 24, 2021

Support Center