Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001010996 | SCV001171272 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-04-12 | criteria provided, single submitter | clinical testing | The c.1348_1349delAAinsCAT pathogenic mutation, located in coding exon 5 of the BARD1 gene, results from the deletion of two nucleotides and insertion of 3 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.N450Hfs*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. |
Color Diagnostics, |
RCV001010996 | SCV001342051 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-08-08 | criteria provided, single submitter | clinical testing | This variant replaces 2 nucleotides in exon 5 of the BARD1 gene with 3 new nucleotides, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BARD1 function is a known mechanism of disease. Based on available evidence, this variant is classified as Pathogenic. |
Myriad Genetics, |
RCV003336099 | SCV004044375 | pathogenic | Familial cancer of breast | 2023-05-23 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Baylor Genetics | RCV003336099 | SCV004217321 | likely pathogenic | Familial cancer of breast | 2022-09-01 | criteria provided, single submitter | clinical testing |