ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2960A>T (p.Asn987Ile) (rs2227944)

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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 RCV000656594 SCV000602854 benign not provided 2017-07-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162623 SCV000213058 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077289 SCV000146150 benign Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000162623 SCV000683516 benign Hereditary cancer-predisposing syndrome 2015-09-30 criteria provided, single submitter clinical testing
Counsyl RCV000077289 SCV000220278 benign Breast-ovarian cancer, familial 2 2014-04-29 criteria provided, single submitter literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120316 SCV000591840 benign not specified 2016-07-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120316 SCV000202281 benign not specified 2014-02-17 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077289 SCV000244433 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 = 0.0000741
GeneDx RCV000120316 SCV000167350 benign not specified 2013-10-08 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 RCV000120316 SCV000084468 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000365242 SCV000383665 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000167849 SCV000383666 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000167849 SCV000494313 benign Hereditary breast and ovarian cancer syndrome 2014-03-04 criteria provided, single submitter clinical testing
Invitae RCV000167849 SCV000072108 benign Hereditary breast and ovarian cancer syndrome 2018-01-02 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656594 SCV000778658 benign not provided 2018-02-28 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000077289 SCV000195972 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
Pathway Genomics RCV000077289 SCV000189895 likely benign Breast-ovarian cancer, familial 2 2014-07-24 no assertion criteria provided clinical testing
PreventionGenetics RCV000120316 SCV000805680 benign not specified 2016-11-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077289 SCV000109086 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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