Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000662926 | SCV000785876 | likely pathogenic | Fanconi anemia complementation group J; Neoplasm of ovary | 2017-12-27 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001177936 | SCV001342252 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-08-12 | criteria provided, single submitter | clinical testing | This variant inserts 1 nucleotide in exon 16 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. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with hereditary cancer 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. Based on available evidence, this variant is classified as Pathogenic. |
Myriad Genetics, |
RCV003316789 | SCV004019329 | 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. |