NM_000059.3(BRCA2):c.9634G>C (p.Gly3212Arg) AND Breast-ovarian cancer, familial 2

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(2);Uncertain significance(2) (Last evaluated: Nov 3, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000031840.6

Allele description [Variation Report for NM_000059.3(BRCA2):c.9634G>C (p.Gly3212Arg)]

NM_000059.3(BRCA2):c.9634G>C (p.Gly3212Arg)

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.9634G>C (p.Gly3212Arg)
HGVS:
  • NC_000013.11:g.32397030G>C
  • NG_012772.3:g.86551G>C
  • NM_000059.3:c.9634G>C
  • NP_000050.2:p.Gly3212Arg
  • LRG_293t1:c.9634G>C
  • LRG_293:g.86551G>C
  • LRG_293p1:p.Gly3212Arg
  • NC_000013.10:g.32971167G>C
  • U43746.1:n.9862G>C
  • p.G3212R
  • p.G3212R:GGA>CGA
Nucleotide change:
9862G>C
Protein change:
G3212R
Links:
dbSNP: 55775473
GMAF:
0.0024(C), 55775473
NCBI 1000 Genomes Browser:
rs55775473
Allele Frequency:
0.0015, GO-ESP
Molecular consequence:
  • NM_000059.3:c.9634G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
11

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
Age of onset:
All ages
Prevalence:
  • 1-9 / 100 000 Orphanet: 145
  • Hereditary breast and ovarian cancer (HBOC) resulting from mutations in BRCA1 and BRCA2 is the most common form of both hereditary breast and ovarian cancers and occurs in all ethnic and racial populations. The overall prevalence of BRCA1/2 mutations is estimated to be from 1:400 to 1:800 [Ford et al 1994, Claus et al 1996, Whittemore et al 1997], but varies depending on ethnicity. http://www.ncbi.nlm.nih.gov/books/NBK1247

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000054448Sharing Clinical Reports Project (SCRP)no assertion criteria providedUncertain significance
(Mar 24, 2008)
germlineclinical testing

SCV000147681Breast Cancer Information Core (BIC) (BRCA2)no assertion criteria providedUncertain significance
(May 29, 2002)
germlineclinical testing

SCV000196028Michigan Medical Genetics Laboratories,University of Michigancriteria provided, single submitter
(ACMG guidelines, 2015)
Likely benign
(Nov 3, 2014)
germlineclinical testing

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

SCV000220768Counsylcriteria provided, single submitter
(Counsyl Autosomal Dominant Disease Classification criteria (2015))
Likely benign
(Oct 3, 2014)
unknownliterature only

PubMed (4)
[See all records that cite these PMIDs]

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes4not providednot providednot providednot providedclinical testing
not providedgermlinenot provided1not providednot provided1not providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedliterature only
Africangermlineyes3not providednot providednot providednot providedclinical testing
African Americangermlineyes3not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups.

Haffty BG, Choi DH, Goyal S, Silber A, Ranieri K, Matloff E, Lee MH, Nissenblatt M, Toppmeyer D, Moran MS.

Ann Oncol. 2009 Oct;20(10):1653-9. doi: 10.1093/annonc/mdp051. Epub 2009 Jun 2.

PubMed [citation]
PMID:
19491284
See all PubMed Citations (5)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000054448.4

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

Co-occurrences

#ZygosityAllelesNumber of Observations
1SingleHeterozygoteBRCA2:2366A>T (Q713L)1
1SingleHeterozygoteBRCA2:6326T>A (I2033K)1

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147681.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
2not provided1not providednot providedclinical testingnot provided
3African3not providednot providedclinical testingnot provided
4African American3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided
3germlineyesnot providednot providednot provided3not providednot providednot provided
4germlineyesnot providednot providednot provided3not providednot providednot provided

From Michigan Medical Genetics Laboratories,University of Michigan, SCV000196028.1

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

From Counsyl, SCV000220768.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 24, 2016