ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2471T>C (p.Leu824Ser) (rs397507631)

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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 RCV000130598 SCV000185471 uncertain significance Hereditary cancer-predisposing syndrome 2014-06-06 criteria provided, single submitter clinical testing Insufficient or inconclusive evidence
Invitae RCV000476153 SCV000549601 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-07-11 criteria provided, single submitter clinical testing This sequence change replaces leucine with serine at codon 824 of the BRCA2 protein (p.Leu824Ser). The leucine residue is moderately conserved and there is a large physicochemical difference between leucine and serine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 133734). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). The serine amino acid residue is also found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000130598 SCV001348068 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-30 criteria provided, single submitter clinical testing
ITMI RCV000120343 SCV000084495 not provided not specified 2013-09-19 no assertion provided reference population

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