ClinVar Miner

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

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Total submissions: 10
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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 2020-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000586429 SCV000108628 likely benign not provided 2021-03-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16683254, 26689913)
Ambry Genetics RCV000132499 SCV000187593 likely benign Hereditary cancer-predisposing syndrome 2018-04-30 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification
Counsyl RCV000031573 SCV000489248 uncertain significance Breast-ovarian cancer, familial 2 2016-09-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000212244 SCV000694896 likely benign not specified 2020-10-05 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. 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 Breast cancer (example, Moghadasi_2013, Lu_2015). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. At-least one co-occurrence with another pathogenic variant has been reported in the BIC database (BRCA1 c.213-12A>G), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Multiple laboratories reported the variant with conflicting assessments (benign/likely benign, n=4). Based on the evidence outlined above, to reflect the emerging consensus in the clinical community, the variant was classified as likely benign.
Color Health, Inc RCV000132499 SCV000903292 benign Hereditary cancer-predisposing syndrome 2017-03-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586429 SCV001469439 uncertain significance not provided 2020-01-24 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 Laboratories, Mayo Clinic RCV000586429 SCV000778690 uncertain significance not provided 2017-02-06 no assertion criteria provided clinical testing

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