ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8115C>G (p.Ser2705Arg) (rs587781889)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130221 SCV000185060 uncertain significance Hereditary cancer-predisposing syndrome 2014-03-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Does not segregate with disease in family study (genes with incomplete penetrance)
Counsyl RCV000411253 SCV000487899 uncertain significance Breast-ovarian cancer, familial 2 2015-12-13 criteria provided, single submitter clinical testing
Color RCV000130221 SCV000683941 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-07 criteria provided, single submitter clinical testing
Invitae RCV000796695 SCV000936218 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-11-27 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 2705 of the BRCA2 protein (p.Ser2705Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with high risk of breast and/or ovarian cancer (PMID: 20960228). This variant is also known as c.8343C>G in the literature. ClinVar contains an entry for this variant (Variation ID: 141626). This variant has been reported not to substantially affect BRCA2 protein function (PMID: 29884841). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, 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.

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