ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6057C>T (p.Asn2019=) (rs147961615)

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Total submissions: 11
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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) RCV000210964 SCV000578004 benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.02; http://priors.hci.utah.edu/PRIORS/) and frequency 0.0061 (African), derived from ExAC (2014-12-17).
GeneDx RCV000123981 SCV000167376 benign not specified 2013-10-29 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 RCV000210964 SCV000195995 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163115 SCV000213626 likely benign Hereditary cancer-predisposing syndrome 2014-07-01 criteria provided, single submitter clinical testing
Invitae RCV001079310 SCV000252609 benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000123981 SCV000592023 likely benign not specified 2016-10-14 criteria provided, single submitter clinical testing
Color RCV000163115 SCV000683750 likely benign Hereditary cancer-predisposing syndrome 2015-04-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679179 SCV000805733 likely benign not provided 2017-07-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000123981 SCV000859228 benign not specified 2018-01-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000679179 SCV000885101 benign not provided 2017-07-17 criteria provided, single submitter clinical testing
Mendelics RCV000210964 SCV001139134 likely benign Breast-ovarian cancer, familial 2 2019-05-28 criteria provided, single submitter clinical testing

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