Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001930340 | SCV002181631 | pathogenic | Familial cancer of breast | 2020-11-05 | 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 BARD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn494*) in the BARD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BARD1 are known to be pathogenic (PMID: 20077502, 21344236). |
Ambry Genetics | RCV004042836 | SCV005035596 | pathogenic | Hereditary cancer-predisposing syndrome | 2024-01-11 | criteria provided, single submitter | clinical testing | The c.1480_1481delAA pathogenic mutation, located in coding exon 6 of the BARD1 gene, results from a deletion of two nucleotides at nucleotide positions 1480 to 1481, causing a translational frameshift with a predicted alternate stop codon (p.N494*). 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. |