ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3086del (p.Ser1029fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003474444 SCV004211352 likely pathogenic Familial cancer of breast 2022-04-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004604952 SCV005101078 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-03 criteria provided, single submitter clinical testing The c.3086delG variant, located in coding exon 19 of the BRIP1 gene, results from a deletion of one nucleotide at nucleotide position 3086, causing a translational frameshift with a predicted alternate stop codon (p.S1029Mfs*30). This alteration occurs at the 3' terminus of theBRIP1 gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 222 amino acids of the protein. The exact functional effect of this alteration is unknown. Based on the available evidence, the clinical significance of this variant remains unclear.

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