NM_000059.3(BRCA2):c.6937+177G>A AND Breast-ovarian cancer, familial 2

Clinical significance:Benign (Last evaluated: Jan 12, 2015)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000191653.1

Allele description [Variation Report for NM_000059.3(BRCA2):c.6937+177G>A]

NM_000059.3(BRCA2):c.6937+177G>A

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.6937+177G>A
Other names:
IVS 12+177G>A
HGVS:
  • NC_000013.11:g.32344830G>A
  • NG_012772.3:g.34351G>A
  • NM_000059.3:c.6937+177G>A
  • LRG_293t1:c.6937+177G>A
  • LRG_293:g.34351G>A
  • NC_000013.10:g.32918967G>A
Links:
dbSNP: rs4942440
GMAF:
0.1857(A), 4942440
NCBI 1000 Genomes Browser:
rs4942440
Molecular consequence:
  • NM_000059.3:c.6937+177G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Breast-ovarian cancer, familial 2 (BROVCA2)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; Breast cancer, familial 2
Identifiers:
MedGen: C2675520; Orphanet: 145; OMIM: 612555

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
SCV000245052Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)reviewed by expert panel
Benign
(Jan 12, 2015)
germlinecuration

ENIGMA BRCA1/2 Classification Criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000245052.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.07343 (Asian), 0.311 (African), 0.2018 (European), derived from 1000 genomes (2012-04-30).

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

Last Updated: Oct 10, 2018