ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9548T>C (p.Ile3183Thr) (rs755201475)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000773162 SCV000906705 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-14 criteria provided, single submitter clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735628 SCV000863766 uncertain significance Breast and/or ovarian cancer 2013-12-17 no assertion criteria provided clinical testing
Invitae RCV000637697 SCV000759168 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-11-06 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 3183 of the BRCA2 protein (p.Ile3183Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs755201475, ExAC 0.02%). This variant has not been reported in the literature in individuals with BRCA2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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