ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3709G>C (p.Ala1237Pro) (rs398122770)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000776156 SCV000911188 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-24 criteria provided, single submitter clinical testing
Invitae RCV000205458 SCV000261446 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-09-30 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 1237 of the BRCA2 protein (p.Ala1237Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. 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: 91806). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759605 SCV000889030 uncertain significance not provided 2017-11-22 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077714 SCV000109517 uncertain significance Breast-ovarian cancer, familial 2 2012-01-24 no assertion criteria provided clinical testing

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