ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1744A>C (p.Thr582Pro) (rs80358457)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162597 SCV000213016 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031334 SCV000145923 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000422713 SCV000586929 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Color RCV000162597 SCV000683441 likely benign Hereditary cancer-predisposing syndrome 2015-12-08 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000422713 SCV000591762 benign not specified 2015-11-20 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031334 SCV000244425 benign Breast-ovarian cancer, familial 2 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.0000224
GeneDx RCV000422713 SCV000512339 likely benign not specified 2017-10-06 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.
Invitae RCV000043869 SCV000071882 benign Hereditary breast and ovarian cancer syndrome 2017-12-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000422713 SCV000600484 likely benign not specified 2017-04-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758864 SCV000887756 likely benign not provided 2017-04-01 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031334 SCV000053939 benign Breast-ovarian cancer, familial 2 2009-08-01 no assertion criteria provided clinical testing
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000031334 SCV000267233 uncertain significance Breast-ovarian cancer, familial 2 2016-03-18 criteria provided, single submitter reference population

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