ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.-31+13delG (rs1064795872)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480018 SCV000572085 uncertain significance not provided 2016-10-24 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.-31+13delG or IVS1+13delG and consists of a deletion of one nucleotide at the +13 position of intron 1 of the BRIP1 gene. Of note, this nucleotide deletion is in the 5' untranslated region (UTR) upstream of the BRIP1 ATG translational start site which is located in exon 2. The normal sequence, with the base that is deleted in braces, is gagg[g]aagt. Multiple splicing models predict this variant to either destroy the nearby natural splice donor site or create a cryptic splice donor site and to possibly cause abnormal gene splicing; however, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant does not appear to affect the start codon or the Kozak translational consensus sequence in exon 2 and has not, to our knowledge, been published in the literature. The guanine (G) nucleotide that is altered is not conserved. Based on currently available evidence, it is unclear whether BRIP1 c.-31+13delG is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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