ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7150C>A (p.Gln2384Lys) (rs55977008)

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Total submissions: 21
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000120353 SCV000602841 benign not specified 2015-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162557 SCV000212967 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031668 SCV000147029 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148435 SCV000190134 likely benign Neoplasm of the breast 2014-06-01 criteria provided, single submitter research
Color RCV000162557 SCV000910606 benign Hereditary cancer-predisposing syndrome 2015-09-30 criteria provided, single submitter clinical testing
Counsyl RCV000031668 SCV000154090 likely benign Breast-ovarian cancer, familial 2 2014-03-20 criteria provided, single submitter literature only
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000045149 SCV000296859 likely benign Hereditary breast and ovarian cancer syndrome 2015-11-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120353 SCV000225993 benign not specified 2014-12-11 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031668 SCV000244499 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 = 0.000000334
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735602 SCV000863740 benign Breast and/or ovarian cancer no assertion criteria provided clinical testing
GeneDx RCV000120353 SCV000210646 benign not specified 2015-11-25 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 RCV000120353 SCV000084505 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000404007 SCV000383760 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000045149 SCV000383761 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000045149 SCV000267845 likely benign Hereditary breast and ovarian cancer syndrome 2017-02-14 criteria provided, single submitter clinical testing
Invitae RCV000045149 SCV000073162 benign Hereditary breast and ovarian cancer syndrome 2018-01-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120353 SCV000538475 likely 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: ExAC: 0.5% (49/10380) African; ClinVar: 6 B/LB, 2 VUS
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656615 SCV000778703 likely benign not provided 2017-05-19 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000031668 SCV000196002 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
Pathway Genomics RCV000031668 SCV000223772 likely benign Breast-ovarian cancer, familial 2 2014-10-30 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031668 SCV000054275 benign Breast-ovarian cancer, familial 2 2007-02-13 no assertion criteria provided clinical testing

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