ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3699del (p.Phe1234fs)

dbSNP: rs1603274686
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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 RCV001020907 SCV001182451 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-11 criteria provided, single submitter clinical testing The c.3699delC variant, located in coding exon 19 of the BRIP1 gene, results from a deletion of one nucleotide at nucleotide position 3699, causing a translational frameshift with a predicted alternate stop codon (p.F1234Lfs*20). 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, impacts only the last 16 amino acids of the protein, and results in the elongation of the protein by 3 amino acids. The exact functional impact of these altered/added 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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