ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3039T>A (p.Thr1013=) (rs863224803)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199262 SCV000255166 uncertain significance Familial cancer of breast 2015-03-30 criteria provided, single submitter clinical testing This sequence change affects codon 1013 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 has not been published in the literature and is not present in population databases. Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this intronic variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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