ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7057G>C (p.Gly2353Arg) (rs80358935)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130876 SCV000185780 likely benign Hereditary cancer-predisposing syndrome 2017-06-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,Other data supporting benign classification
Breast Cancer Information Core (BIC) (BRCA2) RCV000113701 SCV000147013 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000130876 SCV000683848 likely benign Hereditary cancer-predisposing syndrome 2016-03-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120356 SCV000592096 uncertain significance not specified 2012-08-07 criteria provided, single submitter clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735599 SCV000863737 uncertain significance Breast and/or ovarian cancer 2012-05-10 no assertion criteria provided clinical testing
GeneDx RCV000120356 SCV000210643 likely benign not specified 2017-08-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ITMI RCV000120356 SCV000084508 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000294899 SCV000383758 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000203630 SCV000383759 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590450 SCV000695033 likely benign not provided 2016-11-14 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.7057G>C (p.Gly2353Arg) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this substitution (SNPs&GO not captured due to low reliability index). This variant was found in 8/122392 control chromosomes at a frequency of 0.0000654, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). The variant was found in HBOC spectrum patients however, without strong evidence for pathogenicity. In fact, the variant was observed in several patients to co-occur with (potentially) pathogenic BRCA1 and BRCA2 variants such as BRCA1 c.3193_3194insG (p.Asp1065?fs); BRCA2 c.4478_4481delAAAG (p.Glu1493_Ser1494?fs); BRCA2 c.476-2A>G; BRCA1 c.IVS5+1G>A (c.212+1G>A) BRCA1 c.3612delA (p.Ala1206ProfsX4), BRCA1 c.2346dupT indicating neutrality. Furthermore, Lindor_HM_2012 reviewed a multifactorial probability based model and calculated, odds in favor of causality was 0.03 and posterior probability of being deleterious 6.12104 and classified the variant as IARC Class I (Neutral) variant. Additionally, Alsop_2012 reports LOH of the variant within a breast tumor. Moreover, several clinical diagnostic laboratories classify variant as Benign/Likely benign via ClinVar. Considering all evidence, the variant was classified as Likely Benign.
Invitae RCV000203630 SCV000073146 benign Hereditary breast and ovarian cancer syndrome 2018-01-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120356 SCV000538489 uncertain significance not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Clinvar: 3 labs classify as LB/Ben, 2 as VUS; ExAC: 5/66708 European chromosomes
Pathway Genomics RCV000113701 SCV000189910 benign Breast-ovarian cancer, familial 2 2014-07-24 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113701 SCV000189314 benign Breast-ovarian cancer, familial 2 2011-02-25 no assertion criteria provided clinical testing

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