ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3420T>C (p.Ser1140=) (rs118093942)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757044 SCV000885116 benign not provided 2017-09-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162907 SCV000213394 likely benign Hereditary cancer-predisposing syndrome 2014-08-05 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113175 SCV000146230 benign Breast-ovarian cancer, familial 2 2010-09-18 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770717 SCV000902195 benign Breast and/or ovarian cancer 2017-07-05 criteria provided, single submitter clinical testing
Color RCV000162907 SCV000683555 benign Hereditary cancer-predisposing syndrome 2016-05-29 criteria provided, single submitter clinical testing
Counsyl RCV000113175 SCV000154096 likely benign Breast-ovarian cancer, familial 2 2014-04-04 criteria provided, single submitter literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000123963 SCV000591860 likely benign not specified 2016-07-21 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113175 SCV000578021 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 0.0036 (East Asian), derived from ExAC (2014-12-17).
Fulgent Genetics,Fulgent Genetics RCV000113175 SCV000575745 likely benign Breast-ovarian cancer, familial 2 2015-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000123963 SCV000167355 benign not specified 2014-03-14 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.
Invitae RCV000044190 SCV000072203 benign Hereditary breast and ovarian cancer syndrome 2017-12-26 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113175 SCV000267758 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing

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