ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9235G>A (p.Val3079Ile) (rs55933907)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000120369 SCV000602840 likely benign not specified 2016-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162558 SCV000212968 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031803 SCV000147574 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 RCV000768641 SCV000324843 likely benign Breast and/or ovarian cancer 2015-09-11 criteria provided, single submitter clinical testing
Color RCV000162558 SCV000902658 benign Hereditary cancer-predisposing syndrome 2015-10-12 criteria provided, single submitter clinical testing
Counsyl RCV000031803 SCV000220450 likely benign Breast-ovarian cancer, familial 2 2014-06-23 criteria provided, single submitter literature only
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000167789 SCV000296862 likely benign Hereditary breast and ovarian cancer syndrome 2015-11-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120369 SCV000228108 likely benign not specified 2016-01-25 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031803 SCV000244492 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 = 0.00002
GeneDx RCV000120369 SCV000210681 likely benign not specified 2018-02-28 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.
ITMI RCV000120369 SCV000084521 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000167789 SCV000073766 benign Hereditary breast and ovarian cancer syndrome 2018-01-22 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656625 SCV000778724 likely benign not provided 2017-05-19 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000031803 SCV000267829 likely benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031803 SCV000054411 likely benign Breast-ovarian cancer, familial 2 2008-09-23 no assertion criteria provided clinical testing

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