NM_000059.3(BRCA2):c.7975A>G (p.Arg2659Gly) AND Breast-ovarian cancer, familial 2

Clinical significance:Pathogenic (Last evaluated: Jun 18, 2019)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000031712.5

Allele description [Variation Report for NM_000059.3(BRCA2):c.7975A>G (p.Arg2659Gly)]

NM_000059.3(BRCA2):c.7975A>G (p.Arg2659Gly)

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.7975A>G (p.Arg2659Gly)
HGVS:
  • NC_000013.11:g.32362692A>G
  • NG_012772.3:g.52213A>G
  • NM_000059.3:c.7975A>G
  • NP_000050.2:p.Arg2659Gly
  • LRG_293t1:c.7975A>G
  • LRG_293:g.52213A>G
  • LRG_293p1:p.Arg2659Gly
  • NC_000013.10:g.32936829A>G
  • NM_000059.4:c.7975A>GMANE SELECT
  • U43746.1:n.8203A>G
Nucleotide change:
8203A>G
Protein change:
R2659G
Links:
dbSNP: rs80359026
NCBI 1000 Genomes Browser:
rs80359026
Molecular consequence:
  • NM_000059.3:c.7975A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

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
SCV000054319Sharing Clinical Reports Project (SCRP)no assertion criteria providedUncertain significance
(Oct 28, 2009)
germlineclinical testing

SCV000147231Breast Cancer Information Core (BIC) (BRCA2)no assertion criteria providedUncertain significance
(Jul 10, 1998)
germlineclinical testing

SCV000538193Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesseno assertion criteria providedUncertain significancegermlineclinical testing

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

SCV001161662Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)reviewed by expert panel
Pathogenic
(Jun 18, 2019)
germlinecuration

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
not providedgermlinenot provided1not providednot provided1not providedclinical testing

Citations

PubMed

EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.

Caux-Moncoutier V, Castéra L, Tirapo C, Michaux D, Rémon MA, Laugé A, Rouleau E, De Pauw A, Buecher B, Gauthier-Villars M, Viovy JL, Stoppa-Lyonnet D, Houdayer C.

Hum Mutat. 2011 Mar;32(3):325-34. doi: 10.1002/humu.21414. Epub 2011 Feb 8.

PubMed [citation]
PMID:
21120943

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, et al.

Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.

PubMed [citation]
PMID:
31131967
PMCID:
PMC6772163

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000054319.3

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

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147231.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse, SCV000538193.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV001161662.1

#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 = 0.999975

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

Last Updated: Sep 18, 2021

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