ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2264C>G (p.Ala755Gly) (rs1555590565)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000777059 SCV000912741 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-13 criteria provided, single submitter clinical testing
Invitae RCV000812413 SCV000952724 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-09-26 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 755 of the BRIP1 protein (p.Ala755Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRIP1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Benign"; 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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