ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5411T>A (p.Val1804Asp) (rs80356920)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112647 SCV000244402 benign Breast-ovarian cancer, familial 1 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 = 0.0000374
Invitae RCV000679701 SCV000076995 benign not provided 2019-02-28 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148405 SCV000190104 uncertain significance Ovarian cancer 2014-06-01 criteria provided, single submitter research Low GERP score may suggest that this variant may belong in a lower pathogenicity class
GeneDx RCV000120302 SCV000209992 likely benign not specified 2017-10-23 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 RCV000162993 SCV000213481 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120302 SCV000591630 likely benign not specified 2013-08-13 criteria provided, single submitter clinical testing
Color RCV000162993 SCV000683311 likely benign Hereditary cancer-predisposing syndrome 2015-04-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679701 SCV000806973 likely benign not provided 2017-01-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679701 SCV000887729 benign not provided 2018-10-30 criteria provided, single submitter clinical testing
Mendelics RCV000112647 SCV001140467 likely benign Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
ITMI RCV000120302 SCV000084454 not provided not specified 2013-09-19 no assertion provided reference population
Breast Cancer Information Core (BIC) (BRCA1) RCV000112647 SCV000145504 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112647 SCV000189348 benign Breast-ovarian cancer, familial 1 2011-03-01 no assertion criteria provided clinical testing

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