ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.274G>C (p.Ala92Pro) (rs863224755)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199985 SCV000254963 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-05-28 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 92 of the BRCA1 protein (p.Ala92Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. This variant has not been published in the literature and is not present in population databases. 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 disruptive, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
GeneKor MSA RCV000708676 SCV000821919 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Color RCV000708676 SCV001351367 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-16 criteria provided, single submitter clinical testing
Brotman Baty Institute,University of Washington RCV001077226 SCV001243121 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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