ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.553G>A (p.Ala185Thr) (rs745645356)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000581355 SCV000689402 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000471201 SCV000547342 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2016-07-23 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 185 of the BRIP1 protein (p.Ala185Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs745645356, ExAC 0.1%) but 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 output the following: (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The threonine amino acid residue is also found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function or cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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