ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.223G>C (p.Ala75Pro) (rs28897701)

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Total submissions: 19
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000513224 SCV000602764 likely benign not provided 2017-05-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162508 SCV000212899 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000457418 SCV000541074 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077274 SCV000146403 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768584 SCV000219278 likely benign Breast and/or ovarian cancer 2016-12-28 criteria provided, single submitter clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148426 SCV000190125 likely benign Neoplasm of the breast 2014-06-01 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513224 SCV000608676 likely benign not provided 2017-06-30 criteria provided, single submitter clinical testing
Color RCV000162508 SCV000683473 likely benign Hereditary cancer-predisposing syndrome 2015-02-19 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120382 SCV000591664 benign not specified 2014-04-23 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077274 SCV000244429 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 = 0.00000000928
GeneDx RCV000120382 SCV000167398 benign not specified 2013-10-14 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.
ITMI RCV000120382 SCV000084534 not provided not specified 2013-09-19 no assertion provided reference population
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000162508 SCV000679706 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
Invitae RCV000043960 SCV000071973 benign Hereditary breast and ovarian cancer syndrome 2018-01-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120382 SCV000538480 uncertain significance not specified 2016-03-28 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 publications classify as VUS/notpathogenic; ExAC: 17/66638 European chromosomes
Mendelics RCV000043960 SCV000838723 likely benign Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000077274 SCV000195946 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000513224 SCV000805670 uncertain significance not provided 2017-12-05 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077274 SCV000109071 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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