ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8830A>T (p.Ile2944Phe) (rs4987047)

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Total submissions: 26
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000413753 SCV000492483 uncertain significance Neoplasm of the breast criteria provided, single submitter research
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000034467 SCV000602819 benign not provided 2017-05-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131023 SCV000185951 benign Hereditary cancer-predisposing syndrome 2014-06-16 criteria provided, single submitter clinical testing
Baylor Miraca Genetics Laboratories, RCV000463955 SCV000541026 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034467 SCV000043233 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Breast Cancer Information Core (BIC) (BRCA2) RCV000083150 SCV000147469 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000131023 SCV000684000 benign Hereditary cancer-predisposing syndrome 2015-04-06 criteria provided, single submitter clinical testing
Counsyl RCV000083150 SCV000154075 benign Breast-ovarian cancer, familial 2 2014-02-20 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000083150 SCV000744550 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120365 SCV000592232 benign not specified 2012-08-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000083150 SCV000733325 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120365 SCV000227872 benign not specified 2014-07-15 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000083150 SCV000245217 benign Breast-ovarian cancer, familial 2 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.03455 (African), derived from 1000 genomes (2012-04-30).
GeneDx RCV000120365 SCV000167414 benign not specified 2013-09-17 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 RCV000120365 SCV000084517 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000045638 SCV000383792 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317148 SCV000383793 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000045638 SCV000494365 benign Hereditary breast and ovarian cancer syndrome 2014-01-20 criteria provided, single submitter clinical testing
Invitae RCV000045638 SCV000073651 benign Hereditary breast and ovarian cancer syndrome 2018-01-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120365 SCV000538464 benign 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: ClinVar: Ben by expert panel
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000034467 SCV000778720 benign not provided 2017-10-11 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000083150 SCV000196018 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
Pathway Genomics RCV000083150 SCV000223760 benign Breast-ovarian cancer, familial 2 2014-10-30 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120365 SCV000301781 benign not specified criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083150 SCV000115224 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing
True Health Diagnostics RCV000131023 SCV000787956 benign Hereditary cancer-predisposing syndrome 2017-11-14 no assertion criteria provided clinical testing

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