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NM_000059.3(BRCA2):c.9381G>A (p.Trp3127Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 8, 2016
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:
RCV000219823.1

Allele description

NM_000059.3(BRCA2):c.9381G>A (p.Trp3127Ter)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.9381G>A (p.Trp3127Ter)
Other names:
9609G>A
HGVS:
  • NC_000013.11:g.32394813G>A
  • NG_012772.3:g.84334G>A
  • NM_000059.3:c.9381G>A
  • NP_000050.2:p.Trp3127Ter
  • LRG_293t1:c.9381G>A
  • LRG_293:g.84334G>A
  • LRG_293p1:p.Trp3127Ter
  • NC_000013.10:g.32968950G>A
  • p.Trp3127X
Protein change:
W3127*
Links:
dbSNP: rs876661242
NCBI 1000 Genomes Browser:
rs876661242
Molecular consequence:
  • NM_000059.3:c.9381G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000279877GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Pathogenic
(Feb 8, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000279877.9

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

Description

This variant is denoted BRCA2 c.9381G>A at the cDNA level and p.Trp3127Ter (W3127X) at the protein level. The substitution creates a nonsense variant, which changes a Tryptophan to a premature stop codon (TGG>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also reported as BRCA2 9609G>A, has been reported in an individual with a personal or family history of breast and/or ovarian cancer (Ricci 2014) and is considered pathogenic.

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

Last Updated: Dec 16, 2019