ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3277delinsTTCAGAA (p.Leu1093delinsPheArgIle)

dbSNP: rs1555572724
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553250 SCV000633661 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2017-05-10 criteria provided, single submitter clinical testing This variant, c.3277delinsTTCAGAA, is a complex sequence change that results in the deletion of 1 amino acid and insertion of 3 amino acids of the BRIP1 protein (p.Leu1093delinsPheArgIle). 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 acids is currently unknown. In summary, this variant is a novel complex change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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