ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3340C>T (p.Gln1114Ter) (rs1555572681)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657729 SCV000779479 uncertain significance not provided 2017-06-23 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.3340C>T at the cDNA level and p.Gln1114Ter (Q1114X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG). This variant has not, to our knowledge, been reported in the literature. Due to the position of the variant, nonsense mediated decay is not expected to occur, but it might cause loss of normal protein function through protein truncation. BRIP1 Gln1114Ter was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Based on currently available information, we consider BRIP1 Gln1114Ter to be a variant of uncertain significance.

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