NM_000059.3(BRCA2):c.7976G>C (p.Arg2659Thr) AND Breast-ovarian cancer, familial 2

Clinical significance:Pathogenic (Last evaluated: Aug 10, 2015)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000113849.2

Allele description [Variation Report for NM_000059.3(BRCA2):c.7976G>C (p.Arg2659Thr)]

NM_000059.3(BRCA2):c.7976G>C (p.Arg2659Thr)

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.7976G>C (p.Arg2659Thr)
Other names:
8204G>C
HGVS:
  • NC_000013.11:g.32362693G>C
  • NG_012772.3:g.52214G>C
  • NM_000059.3:c.7976G>C
  • NP_000050.2:p.Arg2659Thr
  • LRG_293t1:c.7976G>C
  • LRG_293:g.52214G>C
  • LRG_293p1:p.Arg2659Thr
  • NC_000013.10:g.32936830G>C
  • U43746.1:n.8204G>C
Protein change:
R2659T
Links:
dbSNP: rs80359027
NCBI 1000 Genomes Browser:
rs80359027
Molecular consequence:
  • NM_000059.3:c.7976G>C - missense variant - [Sequence Ontology: SO:0001583]

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:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000147236Breast Cancer Information Core (BIC) (BRCA2)no assertion criteria providedUncertain significance
(Dec 23, 2003)
germlineclinical testing

SCV000244477Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)reviewed by expert panel
Pathogenic
(Aug 10, 2015)
germlinecuration

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

ENIGMA BRCA1/2 Classification Criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Citations

PubMed

Functional assays for classification of BRCA2 variants of uncertain significance.

Farrugia DJ, Agarwal MK, Pankratz VS, Deffenbaugh AM, Pruss D, Frye C, Wadum L, Johnson K, Mentlick J, Tavtigian SV, Goldgar DE, Couch FJ.

Cancer Res. 2008 May 1;68(9):3523-31. doi: 10.1158/0008-5472.CAN-07-1587.

PubMed [citation]
PMID:
18451181
PMCID:
PMC2936780

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147236.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000244477.1

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

Description

IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on posterior probability = 0.997

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

Last Updated: Jun 18, 2021

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