ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3562G>T (p.Glu1188Ter)

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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 RCV002454943 SCV002616650 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-10 criteria provided, single submitter clinical testing The p.E1188* variant (also known as c.3562G>T), located in coding exon 19 of the BRIP1 gene, results from a G to T substitution at nucleotide position 3562. This changes the amino acid from a glutamic acid to a stop codon within coding exon 19. This alteration occurs at the 3' terminus of BRIP1 gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 62 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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