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NM_022552.5(DNMT3A):c.1743G>T (p.Trp581Cys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 12, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000436598.1

Allele description [Variation Report for NM_022552.5(DNMT3A):c.1743G>T (p.Trp581Cys)]

NM_022552.5(DNMT3A):c.1743G>T (p.Trp581Cys)

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.1743G>T (p.Trp581Cys)
HGVS:
  • NC_000002.12:g.25244263C>A
  • NG_029465.2:g.103328G>T
  • NM_001320893.1:c.1287G>T
  • NM_001375819.1:c.1074G>T
  • NM_022552.5:c.1743G>TMANE SELECT
  • NM_153759.3:c.1176G>T
  • NM_175629.2:c.1743G>T
  • NP_001307822.1:p.Trp429Cys
  • NP_001362748.1:p.Trp358Cys
  • NP_072046.2:p.Trp581Cys
  • NP_715640.2:p.Trp392Cys
  • NP_783328.1:p.Trp581Cys
  • LRG_459t2:c.1176G>T
  • LRG_459t4:c.1743G>T
  • LRG_459:g.103328G>T
  • LRG_459p2:p.Trp392Cys
  • LRG_459p4:p.Trp581Cys
  • NC_000002.11:g.25467132C>A
  • NR_135490.2:n.1974G>T
Protein change:
W358C
Links:
dbSNP: rs769419803
NCBI 1000 Genomes Browser:
rs769419803
Molecular consequence:
  • NM_001320893.1:c.1287G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375819.1:c.1074G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022552.5:c.1743G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153759.3:c.1176G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_175629.2:c.1743G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_135490.2:n.1974G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000535294GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jan 12, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000535294.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The W581C variant in the DNMT3A gene has not been reported previously as a germline pathogenic variant, nor as a benign variant, to our knowledge. The W581C variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The W581C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret W581C as a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2023