ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3513dup (p.Glu1172Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002459239 SCV002616377 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-19 criteria provided, single submitter clinical testing The c.3513dupT variant, located in coding exon 19 of the BRIP1 gene, results from a duplication of T at nucleotide position 3513, causing a translational frameshift with a predicted alternate stop codon. Frameshifts are typically deleterious in nature; however, this frameshift occurs at the 3' terminus of BRIP1, is not expected to trigger nonsense-mediated mRNA decay, and impacts only the last 78 amino acids of the protein. The exact functional impact of these altered amino acids is unknown at this time. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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