Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000561666 | SCV000665770 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-12-14 | criteria provided, single submitter | clinical testing | The p.Y446* pathogenic mutation (also known as c.1338C>G), located in coding exon 5 of the BARD1 gene, results from a C to G substitution at nucleotide position 1338. This changes the amino acid from a tyrosine to a stop codon within coding exon 5. 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. |
Invitae | RCV001060889 | SCV001225606 | pathogenic | Familial cancer of breast | 2022-03-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 481402). This variant has not been reported in the literature in individuals affected with BARD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr446*) 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). |
Myriad Genetics, |
RCV001060889 | SCV004044367 | pathogenic | Familial cancer of breast | 2023-05-23 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |