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NM_000059.3(BRCA2):c.9381G>A (p.Trp3127Ter) AND Hereditary breast and ovarian cancer syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 26, 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:
RCV000229281.2

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)

Name:
Hereditary breast and ovarian cancer syndrome (HBOC)
Synonyms:
Hereditary breast and ovarian cancer
Identifiers:
MeSH: D061325; MedGen: C0677776; Orphanet: 145; OMIM: PS604370

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000283365Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Jan 26, 2017)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000283365.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change creates a premature translational stop signal at codon 3127 (p.Trp3127*). It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This particular variant has been reported in the literature in an individual with suspected hereditary breast and ovarian cancer syndrome (PMID: 24065114). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 30, 2018