ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1790C>G (p.Ala597Gly) (rs751667661)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475483 SCV000547354 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2016-08-20 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 597 of the BRIP1 protein (p.Ala597Gly). 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) and has not been reported in the literature in individuals with a BRIP1-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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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