ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.918+2T>C

dbSNP: rs1603346587
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001018964 SCV001180263 likely pathogenic Hereditary cancer-predisposing syndrome 2019-01-04 criteria provided, single submitter clinical testing The c.918+2T>C intronic variant results from a T to C substitution two nucleotides after coding exon 6 in the BRIP1 gene. One study detected this alteration in 1/100 Japanese familial breast cancer patients who had previous tested negative for BRCA1/2 mutations (Sato K et al. Cancer Sci., 2017 Nov;108:2287-2294). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.
Cancer Genomics Group, Japanese Foundation For Cancer Research RCV001030544 SCV001193540 likely pathogenic Hereditary breast ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research

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