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
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
Invitae RCV000167849 SCV000072108 benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
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.
Michigan Medical Genetics Laboratories,University of Michigan RCV000077289 SCV000195972 benign Breast-ovarian cancer, familial 2 2014-11-03 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
Ambry Genetics RCV000162623 SCV000213058 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Counsyl RCV000077289 SCV000220278 benign Breast-ovarian cancer, familial 2 2014-04-29 criteria provided, single submitter literature only
Illumina Clinical Services Laboratory,Illumina RCV000365242 SCV000383665 likely benign Fanconi anemia, complementation group D1 2018-02-02 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000077289 SCV000383666 likely benign Breast-ovarian cancer, familial 2 2018-02-02 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Integrated Genetics/Laboratory Corporation of America RCV000167849 SCV000494313 benign Hereditary breast and ovarian cancer syndrome 2014-03-04 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120316 SCV000591840 benign not specified 2016-07-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000120316 SCV000602854 benign not specified 2018-09-20 criteria provided, single submitter clinical testing
Color RCV000162623 SCV000683516 benign Hereditary cancer-predisposing syndrome 2015-09-30 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120316 SCV000805680 benign not specified 2016-11-02 criteria provided, single submitter clinical testing
ITMI RCV000120316 SCV000084468 not provided not specified 2013-09-19 no assertion provided reference population
Sharing Clinical Reports Project (SCRP) RCV000077289 SCV000109086 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided 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
Pathway Genomics RCV000077289 SCV000189895 likely benign Breast-ovarian cancer, familial 2 2014-07-24 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656594 SCV000778658 benign not provided 2018-02-28 no assertion criteria provided clinical testing

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