ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.125A>G (p.Tyr42Cys) (rs4987046)

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Total submissions: 27
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034429 SCV000602882 benign not provided 2017-05-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162523 SCV000212918 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000457914 SCV000541034 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034429 SCV000043191 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) (BRCA2) RCV000113161 SCV000146213 not provided Breast-ovarian cancer, familial 2 no assertion provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768583 SCV000219274 benign Breast and/or ovarian cancer 2016-02-19 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000120379 SCV000586914 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Color RCV000162523 SCV000683410 benign Hereditary cancer-predisposing syndrome 2014-11-25 criteria provided, single submitter clinical testing
Counsyl RCV000113161 SCV000488699 benign Breast-ovarian cancer, familial 2 2016-05-24 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113161 SCV000744379 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120379 SCV000591661 benign not specified 2012-11-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000113161 SCV000733208 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120379 SCV000228768 likely benign not specified 2015-05-19 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113161 SCV000244419 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 = 1.22E-18. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.04021 (Asian), 0.1016 (African), 0.04749 (European), derived from 1000 genomes (2012-04-30).
GeneDx RCV000120379 SCV000167396 benign not specified 2013-10-28 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.
Genetic Services Laboratory, University of Chicago RCV000120379 SCV000593698 likely benign not specified 2015-12-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000113161 SCV000743236 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
ITMI RCV000120379 SCV000084531 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000257910 SCV000383603 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000257910 SCV000494373 benign Hereditary breast and ovarian cancer syndrome 2013-10-09 criteria provided, single submitter clinical testing
Invitae RCV000257910 SCV000560432 benign Hereditary breast and ovarian cancer syndrome 2018-01-12 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000034429 SCV000778632 benign not provided 2017-05-15 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113161 SCV000195945 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
Pathway Genomics RCV000113161 SCV000223764 benign Breast-ovarian cancer, familial 2 2014-10-30 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120379 SCV000301753 benign not specified criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113161 SCV000053920 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing
True Health Diagnostics RCV000162523 SCV000787917 likely benign Hereditary cancer-predisposing syndrome 2017-10-10 no assertion criteria provided clinical testing

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