ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2975C>T (p.Thr992Ile)

dbSNP: rs2061324557
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206207 SCV001377504 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 992 of the BRIP1 protein (p.Thr992Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. 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. 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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