ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.-30-6T>C (rs876661093)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000221589 SCV000279505 uncertain significance not provided 2015-10-16 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.-30-6T>C or IVS1-6T>C and consists of a T>C nucleotide substitution at the -6 position of intron 1 of the BRIP1 gene. Of note, this nucleotide substitution is in the 5Â’ untranslated region (UTR), several base pairs upstream of the BRIP1 ATG translational start site which is located. While one in silico model predicts this variant to cause a moderate decrease in use of the nearby natural splice acceptor site, others do not predict a significant effect. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. The thymine (T) nucleotide that is altered is conserved across species. Based on currently available information, it is unclear whether BRIP1 c.-30-6T>C is pathogenic or benign. We consider it to be a variant of uncertain significance.

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