ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.-47G>C (rs876661232)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000222745 SCV000279852 uncertain significance not provided 2017-10-10 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.-47G>C, and describes a nucleotide substitution 47 base pairs upstream of the BRIP1 ATG translational start site in the 5' untranslated region (UTR). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. This variant does not appear to affect the start codon or the Kozak translational consensus sequence, and this base is not conserved across species. This variant has the potential to cause incorrect splicing, but in silico splicing models are uninformative. At this time, we consider BRIP1 c.-47G>C to be a variant of uncertain significance.

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