ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5737T>C (p.Cys1913Arg) (rs80358799)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000044738 SCV000072751 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000212244 SCV000108628 likely benign not specified 2018-02-15 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.
Ambry Genetics RCV000132499 SCV000187593 likely benign Hereditary cancer-predisposing syndrome 2018-04-30 criteria provided, single submitter clinical testing Other strong data supporting benign classification;In silico models in agreement (benign)
Counsyl RCV000031573 SCV000489248 uncertain significance Breast-ovarian cancer, familial 2 2016-09-09 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000212244 SCV000694896 uncertain significance not specified 2019-06-14 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.5737T>C (p.Cys1913Arg) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 250954 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.5737T>C has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer. These reports however, do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer (lack of co-occurrence and co-segregation data). A co-occurrence with another pathogenic variant has been reported (BRCA1 c.213-12A>G, in the BIC database), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Six other submitters have provided clinical-significance assessments for this variant in ClinVar after 2014 (without evidence for independent evaluation), and classified the variant as VUS (2x), likely benign (3x) or benign (1x). Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Color RCV000132499 SCV000903292 benign Hereditary cancer-predisposing syndrome 2017-03-08 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031573 SCV000054179 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031573 SCV000146683 uncertain significance Breast-ovarian cancer, familial 2 2000-08-16 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000586429 SCV000778690 uncertain significance not provided 2017-02-06 no assertion criteria provided clinical testing

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