ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2934del (p.Ala980fs)

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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 RCV003171297 SCV003859888 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-16 criteria provided, single submitter clinical testing The c.2934delG variant, located in coding exon 19 of the BRIP1 gene, results from a deletion of one nucleotide at nucleotide position 2934, causing a translational frameshift with a predicted alternate stop codon (p.A980Qfs*5). This alteration occurs at the 3' terminus of theBRIP1 gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 270 amino acids of the protein. The exact functional effect of this alteration is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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