Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001391008 | SCV001592924 | pathogenic | Familial cancer of breast | 2020-03-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BARD1 are known to be pathogenic (PMID: 20077502, 21344236). This variant has not been reported in the literature in individuals with BARD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser575Cysfs*14) in the BARD1 gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV003169953 | SCV003854342 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-01-12 | criteria provided, single submitter | clinical testing | The c.1723_1729delAGTGGGC pathogenic mutation, located in coding exon 8 of the BARD1 gene, results from a deletion of 7 nucleotides at nucleotide positions 1723 to 1729, causing a translational frameshift with a predicted alternate stop codon (p.S575Cfs*14). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. |