Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000561015 | SCV000660924 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-07-21 | criteria provided, single submitter | clinical testing | The p.W635* pathogenic mutation (also known as c.1905G>A), located in coding exon 10 of the BARD1 gene, results from a G to A substitution at nucleotide position 1905. This changes the amino acid from a tryptophan to a stop codon within coding exon 10. 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 | RCV000635845 | SCV000757270 | pathogenic | Familial cancer of breast | 2024-01-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp635*) 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 (rs773223671, 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: 479187). For these reasons, this variant has been classified as Pathogenic. |
| Color Diagnostics, |
RCV000561015 | SCV001355929 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-08-19 | criteria provided, single submitter | clinical testing | This variant changes 1 nucleotide in exon 10 of the BARD1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 1/251242 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BARD1 function is a known mechanism of disease. Based on the available evidence, this variant is classified as Pathogenic. |
| Gene |
RCV001764637 | SCV002008432 | likely pathogenic | not provided | 2023-08-18 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Observed in an individual with a personal and family history of breast cancer (Lim et al., 2022); This variant is associated with the following publications: (PMID: 36315097) |
| Myriad Genetics, |
RCV000635845 | SCV004044062 | pathogenic | Familial cancer of breast | 2023-05-24 | 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. |
| Baylor Genetics | RCV000635845 | SCV004217345 | pathogenic | Familial cancer of breast | 2021-09-14 | criteria provided, single submitter | clinical testing |