ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3532G>T (p.Glu1178Ter) (rs876661115)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000219880 SCV000279565 uncertain significance not provided 2015-11-11 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.3532G>T at the cDNA level and p.Glu1178Ter (E1178X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAA>TAA).. This variant has not, to our knowledge, been reported in the literature. BRIP1 Glu1178Ter results in the loss of 72 amino acids at the end of the protein, which might affect normal function. However, due to the location of the newly created nonsense codon near the end of the gene in the last exon, the transcript is not expected to undergo nonsense-mediated decay and could therefore encode a truncated protein that retains some normal function. In addition, this variant does not disrupt any known protein functional domains (UniProt). BRIP1 Glu1178Ter was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Based on currently available information, we consider BRIP1 Glu1178Ter to be a variant of uncertain significance.

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