ClinVar Miner

Submissions for variant NM_007300.4(BRCA1):c.2315T>C (p.Val772Ala) (rs80357467)

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Total submissions: 20
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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) RCV000111824 SCV000244316 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 = 0.000000192
Invitae RCV000047797 SCV000075810 benign Hereditary breast and ovarian cancer syndrome 2018-01-04 criteria provided, single submitter clinical testing
Counsyl RCV000111824 SCV000154018 likely benign Breast-ovarian cancer, familial 1 2014-02-06 criteria provided, single submitter literature only
GeneDx RCV000168496 SCV000167254 benign not specified 2014-01-22 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 RCV000162790 SCV000213268 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000111824 SCV000267700 benign Breast-ovarian cancer, familial 1 2016-04-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000168496 SCV000538449 uncertain significance not specified 2016-06-16 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: Multiple papers describe as VUS; ClinVar: 5 B/LB, 3 VUS
Fulgent Genetics,Fulgent Genetics RCV000111824 SCV000575713 likely benign Breast-ovarian cancer, familial 1 2015-10-01 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000168496 SCV000591379 benign not specified 2014-03-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000168496 SCV000593674 likely benign not specified 2017-05-12 criteria provided, single submitter clinical testing
Color RCV000162790 SCV000683027 likely benign Hereditary cancer-predisposing syndrome 2015-01-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000034731 SCV000708437 uncertain significance not provided 2017-05-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000111824 SCV000743418 likely benign Breast-ovarian cancer, familial 1 2017-07-28 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000111824 SCV000744662 benign Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034731 SCV000883464 benign not provided 2018-03-28 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034731 SCV000043177 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111824 SCV000144378 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148397 SCV000190096 uncertain significance Neoplasm of the breast 2014-06-01 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000111824 SCV000733645 benign Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000034731 SCV000778758 likely benign not provided 2017-05-17 no assertion criteria provided clinical testing

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