ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3496G>C (p.Ala1166Pro) (rs745418679)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200382 SCV000254975 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-02-21 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 1166 of the BRCA1 protein (p.Ala1166Pro). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and proline. This variant has not been published in the literature and has only been reported once in population databases (no rsID). 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this is a missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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