ClinVar Miner

Submissions for variant NM_007299.4(BRCA1):c.1172+14A>G (rs80358022)

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Total submissions: 11
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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) RCV000112340 SCV000244677 benign Breast-ovarian cancer, familial 1 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.01224 (Asian), derived from 1000 genomes (2012-04-30).
Invitae RCV000167814 SCV000076584 benign Hereditary breast and ovarian cancer syndrome 2017-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000048571 SCV000167304 benign not specified 2013-11-25 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.
Counsyl RCV000112340 SCV000221034 likely benign Breast-ovarian cancer, familial 1 2015-01-15 criteria provided, single submitter literature only
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000048571 SCV000538432 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 1.0% (84/8640) East Asian chromosomes; ClinVar: 3 labs classify as B/LB
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000048571 SCV000586899 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000048571 SCV000591516 benign not specified 2012-11-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000048571 SCV000602731 benign not specified 2016-01-26 criteria provided, single submitter clinical testing
Color RCV000579438 SCV000683186 benign Hereditary cancer-predisposing syndrome 2015-02-23 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000579438 SCV000803146 likely benign Hereditary cancer-predisposing syndrome 2018-05-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112340 SCV000145096 uncertain significance Breast-ovarian cancer, familial 1 2006-07-19 no assertion criteria provided clinical testing

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