Total submissions: 2
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, |
RCV001030544 | SCV001193540 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2019-05-01 | criteria provided, single submitter | research |