ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5427C>T (p.Cys1809=) (rs80359791)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757038 SCV000885089 likely benign not provided 2017-12-03 criteria provided, single submitter clinical testing The BRCA2 c.5427C>T; p.Cys1809Cys variant is not published in the medical literature. The variant is listed in the ClinVar database (Variation ID: 51859), in the dbSNP variant database (rs80359791), and in the Genome Aggregation Database in 30/276920 alleles. This is a silent variant, the nucleotide at this position is not well conserved across species, and computational algorithms (SpliceSiteFinder-like, MaxEntScan, NNSplice, GeneSplicer, Human Splicing Finder) predict no significant change to splicing. Considering available information, this variant is classified as likely benign.
Ambry Genetics RCV000164397 SCV000215033 likely benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113429 SCV000146612 uncertain significance Breast-ovarian cancer, familial 2 1998-11-30 no assertion criteria provided clinical testing
Color RCV000164397 SCV000683705 benign Hereditary cancer-predisposing syndrome 2016-10-08 criteria provided, single submitter clinical testing
Counsyl RCV000113429 SCV000786251 likely benign Breast-ovarian cancer, familial 2 2018-03-27 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113429 SCV000744470 likely benign Breast-ovarian cancer, familial 2 2017-06-28 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113429 SCV000578988 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/).
GeneDx RCV000443033 SCV000518432 benign not specified 2015-08-17 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 RCV000044657 SCV000072670 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-18 criteria provided, single submitter clinical testing

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