Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000708903 | SCV000837955 | likely pathogenic | Familial cancer of breast | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV003584731 | SCV004362637 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-12-05 | criteria provided, single submitter | clinical testing | This variant deletes 1 nucleotide in exon 8 of the BARD1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in over five Brazilian individuals affected with breast cancer (PMID: 35264596, 35980532). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BARD1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |