ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5928G>T (p.Gly1976=) (rs752858082)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163201 SCV000213723 likely benign Hereditary cancer-predisposing syndrome 2014-09-19 criteria provided, single submitter clinical testing
Color RCV000163201 SCV000688957 likely benign Hereditary cancer-predisposing syndrome 2016-07-17 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495305 SCV000578808 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 RCV000427985 SCV000518445 likely benign not specified 2016-02-12 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 RCV000466934 SCV000549881 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-10-02 criteria provided, single submitter clinical testing This sequence change affects codon 1976 of the BRCA2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BRCA2 protein. This variant is present in population databases (rs752858082, ExAC 0.003%). This variant has been reported in the literature in an individual with breast and/or ovarian cancer (PMID: 21120943). ClinVar contains an entry for this variant (Variation ID: 184080). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000427985 SCV000600669 uncertain significance not specified 2016-10-13 criteria provided, single submitter clinical testing

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