ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2758C>A (p.Pro920Thr) (rs397507293)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469857 SCV000549505 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-28 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 920 of the BRCA2 protein (p.Pro920Thr). The proline residue is weakly conserved and there is a small physicochemical difference between proline and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with breast cancer (PMID: 16875939). This variant is also known as 2986C>A in the literature (PMID: 16875939). ClinVar contains an entry for this variant (Variation ID: 37800). 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, 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.
Counsyl RCV000031381 SCV000785767 uncertain significance Breast-ovarian cancer, familial 2 2017-11-27 criteria provided, single submitter clinical testing
Color RCV000776350 SCV000911717 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-26 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031381 SCV000053986 uncertain significance Breast-ovarian cancer, familial 2 2009-01-21 no assertion criteria provided clinical testing

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