Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000165343 | SCV000216067 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-09-09 | criteria provided, single submitter | clinical testing | The p.Q166* pathogenic mutation (also known as c.496C>T), located in coding exon 4 of the BARD1 gene, results from a C to T substitution at nucleotide position 496. This changes the amino acid from a glutamine to a stop codon within coding exon 4. 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. |
Gene |
RCV000437177 | SCV000517375 | pathogenic | not provided | 2015-05-29 | criteria provided, single submitter | clinical testing | This pathogenic variant is denoted BARD1 c.496C>T at the cDNA level and p.Gln166Ter (Q166X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic. |
Invitae | RCV000691023 | SCV000818762 | pathogenic | Familial cancer of breast | 2024-01-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln166*) 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). This variant is present in population databases (rs786202500, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with BARD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 185846). For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV000691023 | SCV004044291 | pathogenic | Familial cancer of breast | 2023-05-18 | 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. |