ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7462A>G (p.Arg2488Gly) (rs746057464)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529176 SCV000635578 uncertain significance Hereditary breast and ovarian cancer syndrome 2020-10-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 2488 of the BRCA2 protein (p.Arg2488Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs746057464, ExAC 0.006%). This variant has been observed in individuals affected with breast cancer (PMID: 26997744, 22425665, 30362333). This variant is also known as 7690A>G. ClinVar contains an entry for this variant (Variation ID: 462440). Experimental studies have shown that this missense change does not disrupt BRCA2 protein function (PMID: 29394989). 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 RCV001026467 SCV001188853 likely benign Hereditary cancer-predisposing syndrome 2020-02-25 criteria provided, single submitter clinical testing Intact protein function observed in appropriate functional assay(s)
Color Health, Inc RCV001026467 SCV001344651 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-11 criteria provided, single submitter clinical testing

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