ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9292T>C (p.Tyr3098His) (rs41293521)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755867 SCV000883494 likely benign not provided 2017-06-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163017 SCV000213505 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031810 SCV000147602 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 RCV000768642 SCV000324846 likely benign Breast and/or ovarian cancer 2015-10-16 criteria provided, single submitter clinical testing
Color RCV000163017 SCV000684051 likely benign Hereditary cancer-predisposing syndrome 2015-03-11 criteria provided, single submitter clinical testing
Counsyl RCV000031810 SCV000220608 likely benign Breast-ovarian cancer, familial 2 2014-08-20 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000031810 SCV000744562 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120370 SCV000592273 likely benign not specified 2013-12-13 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031810 SCV000244493 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 = 0.00000349
Fulgent Genetics,Fulgent Genetics RCV000031810 SCV000575724 uncertain significance Breast-ovarian cancer, familial 2 2015-08-07 criteria provided, single submitter clinical testing
GeneDx RCV000120370 SCV000210686 likely benign not specified 2018-01-10 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000031810 SCV000743364 likely benign Breast-ovarian cancer, familial 2 2015-08-24 criteria provided, single submitter clinical testing
ITMI RCV000120370 SCV000084522 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000167775 SCV000073795 benign Hereditary breast and ovarian cancer syndrome 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120370 SCV000538492 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: Has been reported in 2 families with female breast and ovarian cancer (Serova-Sinilnikova 1997). Has been classified as benign by Akbari 2011 (based on Myriad classification criteria), Bodian 2011 (presence in controls), Guidugli 2014 (functional assay), Lindor 2012 (posterior probability model OR). No functional impact in DNA break repair assay (Guidugli 2013). B/LB by SCRP, GeneDx, Ambry, Counsyl, Invitae; VUS by BIC in ClinVar.
Michigan Medical Genetics Laboratories,University of Michigan RCV000031810 SCV000196025 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031810 SCV000054418 benign Breast-ovarian cancer, familial 2 2008-09-05 no assertion criteria provided clinical testing

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