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NM_000059.4(BRCA2):c.316+5G>C AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 2018
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV001000109.10

Allele description [Variation Report for NM_000059.4(BRCA2):c.316+5G>C]

NM_000059.4(BRCA2):c.316+5G>C

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.316+5G>C
HGVS:
  • NC_000013.11:g.32319330G>C
  • NG_012772.3:g.8851G>C
  • NG_017006.2:g.1034C>G
  • NM_000059.4:c.316+5G>CMANE SELECT
  • LRG_293t1:c.316+5G>C
  • LRG_293:g.8851G>C
  • NC_000013.10:g.32893467G>C
  • NM_000059.3:c.316+5G>C
Links:
dbSNP: rs81002840
NCBI 1000 Genomes Browser:
rs81002840
Molecular consequence:
  • NM_000059.4:c.316+5G>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:
Breast-ovarian cancer, familial 2
Identifiers:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001156533Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2017-06-29))		Pathogenic
(Apr 1, 2018) 		germlinecuration

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.

Caputo SM, Léone M, Damiola F, Ehlen A, Carreira A, Gaidrat P, Martins A, Brandão RD, Peixoto A, Vega A, Houdayer C, Delnatte C, Bronner M, Muller D, Castera L, Guillaud-Bataille M, Søkilde I, Uhrhammer N, Demontety S, Tubeuf H, Castelain G; French COVAR group collaborators., et al.

Oncotarget. 2018 Apr 3;9(25):17334-17348. doi: 10.18632/oncotarget.24671.

PubMed [citation]
PMID:
29707112
PMCID:
PMC5915120

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV001156533.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

Class 5 Pathogenic based on posterior probability = 0.9999 (PMID: 29707112) from multifactorial likelihood analysis, thresholds for IARC Class as per Plon et al. 2008 (PMID: 18951446). Almost complete (95%) skipping of exon 3 (r.68_316del) in a minigene splicing assay. Molecular consequence is the same as other variants designated as pathogenic as determined by multifactorial likelihood analysis (PMID: 29707112).

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

Last Updated: Nov 10, 2024