ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2691G>A (p.Lys897=) (rs1555573425)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528488 SCV000633633 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2017-04-18 criteria provided, single submitter clinical testing This sequence change affects codon 897 of the BRIP1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BRIP1 protein. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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