ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3686T>C (p.Ile1229Thr)

dbSNP: rs1157058742
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000824351 SCV000965247 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 1229 of the BRIP1 protein (p.Ile1229Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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