Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000662777 | SCV000785584 | likely pathogenic | Fanconi anemia complementation group J; Ovarian neoplasm | 2017-09-25 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001385761 | SCV001585723 | pathogenic | Familial cancer of breast; Fanconi anemia complementation group J | 2021-04-26 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 548798). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr311Phefs*26) 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). |
Myriad Genetics, |
RCV003316784 | SCV004019330 | pathogenic | Familial cancer of breast | 2023-02-27 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Color Diagnostics, |
RCV003584699 | SCV004362954 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-11-21 | criteria provided, single submitter | clinical testing | This variant deletes 4 nucleotides in exon 8 of the BRIP1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with BRIP1-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRIP1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |