Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001010396 | SCV001170589 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-12-17 | criteria provided, single submitter | clinical testing | The c.1222dupT pathogenic mutation, located in coding exon 8 of the BRIP1 gene, results from a duplication of T at nucleotide position 1222, causing a translational frameshift with a predicted alternate stop codon (p.Y408Lfs*14). 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 | RCV001390858 | SCV001592723 | pathogenic | Familial cancer of breast; Fanconi anemia complementation group J | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr408Leufs*14) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 818629). For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV003336229 | SCV004044404 | pathogenic | Familial cancer of breast | 2023-06-01 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |