ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5985C>T (p.Asn1995=) (rs374620036)

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Total submissions: 12
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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) RCV000211013 SCV000578749 likely benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Michigan Medical Genetics Laboratories,University of Michigan RCV000211013 SCV000195994 uncertain significance Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163574 SCV000214133 likely benign Hereditary cancer-predisposing syndrome 2014-10-23 criteria provided, single submitter clinical testing
Invitae RCV001081901 SCV000260226 benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000418331 SCV000512373 likely benign not specified 2017-04-04 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.
Baylor Genetics RCV000471964 SCV000541073 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000418331 SCV000592018 likely benign not specified 2015-06-30 criteria provided, single submitter clinical testing
Color RCV000163574 SCV000683746 likely benign Hereditary cancer-predisposing syndrome 2016-10-13 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000418331 SCV000694924 likely benign not specified 2019-11-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589802 SCV000887861 likely benign not provided 2018-07-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000418331 SCV001159045 likely benign not specified 2018-09-18 criteria provided, single submitter clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735578 SCV000863716 likely benign Breast and/or ovarian cancer 2013-04-19 no assertion criteria provided clinical testing

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