ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2284_2285delinsTA (p.Arg762Tyr) (rs1555590511)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553339 SCV000633601 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2017-03-30 criteria provided, single submitter clinical testing This variant, c.2284_2285delCGinsTA, is a complex sequence change that results in the replacement of arginine with tyrosine at the highly conserved codon 762 of the BRIP1 protein (p.Arg762Tyr) but otherwise preserves the integrity of the reading frame. 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the replaced amino acid is currently unknown. In summary, this variant is a novel in-frame complex sequence change with uncertain impact on protein function. There is no indication that it causes disease, but 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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