Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001208549 | SCV001379943 | pathogenic | Familial cancer of breast; Fanconi anemia complementation group J | 2019-09-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). This variant has not been reported in the literature in individuals with BRIP1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln561Hisfs*2) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV002402611 | SCV002710680 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-11-21 | criteria provided, single submitter | clinical testing | The c.1683_1684delGA pathogenic mutation, located in coding exon 11 of the BRIP1 gene, results from a deletion of two nucleotides at nucleotide positions 1683 to 1684, causing a translational frameshift with a predicted alternate stop codon (p.Q561Hfs*2). 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. |
Center for Genomic Medicine, |
RCV003493821 | SCV004242902 | pathogenic | not provided | 2024-02-06 | criteria provided, single submitter | clinical testing |