ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3064G>C (p.Glu1022Gln) (rs587782808)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234363 SCV000291031 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2015-12-08 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 1022 of the BRIP1 protein (p.Glu1022Gln). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and glutamine. 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. The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. In addition, 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 tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However, the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.

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