ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg) (rs80357164)

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Total submissions: 10
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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) RCV000077483 SCV000244296 pathogenic 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 5 based on posterior probability = 0.99
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077483 SCV000324971 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000077483 SCV000488027 pathogenic Breast-ovarian cancer, familial 1 2015-12-28 criteria provided, single submitter clinical testing
Genologica Medica RCV000077483 SCV000577916 pathogenic Breast-ovarian cancer, familial 1 2017-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570028 SCV000665362 pathogenic Hereditary cancer-predisposing syndrome 2017-05-31 criteria provided, single submitter clinical testing Deficient protein function in appropriate functional assay(s);Well-characterized mutation at same position;Structural Evidence;Other strong data supporting pathogenic classification;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985365 SCV001133477 pathogenic not provided 2018-12-05 criteria provided, single submitter clinical testing Statistically enriched in patients compared to ethnically matched controls. Not found in the total gnomAD dataset, and the data is high quality (0/282180 chr). Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. One other pathogenic or likely pathogenic variant affects the same amino acid. Assessment of experimental evidence suggests this variant results in abnormal protein function.
Sharing Clinical Reports Project (SCRP) RCV000077483 SCV000109281 pathogenic Breast-ovarian cancer, familial 1 2008-07-15 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077483 SCV000144349 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496824 SCV000587013 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Brotman Baty Institute,University of Washington RCV000077483 SCV001241900 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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