ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6826C>T (p.Pro2276Ser) (rs80358907)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045067 SCV000073080 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-06-06 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 2276 of the BRCA2 protein (p.Pro2276Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Breast Cancer Information Core database (PMID: 10923033). ClinVar contains an entry for this variant (Variation ID: 52202). 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 tolerated, but 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. While it is absent from the population and reported in affected individuals, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000213626 SCV000274906 uncertain significance Hereditary cancer-predisposing syndrome 2015-04-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113654 SCV000146947 uncertain significance Breast-ovarian cancer, familial 2 2001-01-17 no assertion criteria provided clinical testing

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