ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.535G>T (p.Glu179Ter)

dbSNP: rs1555615784
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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 RCV000575600 SCV000661600 pathogenic Hereditary cancer-predisposing syndrome 2017-07-26 criteria provided, single submitter clinical testing The p.E179* pathogenic mutation (also known as c.535G>T), located in coding exon 5 of the BRIP1 gene, results from a G to T substitution at nucleotide position 535. This changes the amino acid from a glutamic acid to a stop codon within coding exon 5. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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