ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4584C>G (p.Ser1528Arg) (rs80359788)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537486 SCV000635385 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-11-05 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 1528 of the BRCA2 protein (p.Ser1528Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is present in population databases (rs80359788, ExAC 0.009%). This variant has been reported in an individual with breast cancer (PMID: 24010542). ClinVar contains an entry for this variant (Variation ID: 462348). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional 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.
Ambry Genetics RCV000565812 SCV000661438 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000565812 SCV000683632 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Counsyl RCV000662564 SCV000785166 uncertain significance Breast-ovarian cancer, familial 2 2017-05-17 criteria provided, single submitter clinical testing

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