Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001026299 | SCV001188649 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-08-23 | criteria provided, single submitter | clinical testing | The c.734_740dupAAATATA pathogenic mutation, located in coding exon 6 of the BRIP1 gene, results from a duplication of AAATATA at nucleotide position 734 to 740, causing a translational frameshift with a predicted alternate stop codon (p.Y247*). 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. |
Invitae | RCV001052702 | SCV001216926 | pathogenic | Familial cancer of breast; Fanconi anemia complementation group J | 2019-03-13 | 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.Tyr247*) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product. |
Myriad Genetics, |
RCV003336272 | SCV004045249 | pathogenic | Familial cancer of breast | 2023-05-31 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |