ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2518_2519del (p.Gly840fs)

dbSNP: rs1555574796
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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 RCV000565568 SCV000666263 pathogenic Hereditary cancer-predisposing syndrome 2017-05-17 criteria provided, single submitter clinical testing The c.2518_2519delGG pathogenic mutation, located in coding exon 17 of the BRIP1 gene, results from a deletion of two nucleotides at nucleotide positions 2518 to 2519, causing a translational frameshift with a predicted alternate stop codon (p.G840Sfs*7). 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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