Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000776884 | SCV000912550 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2020-05-13 | criteria provided, single submitter | clinical testing | This variant inserts 2 nucleotides in exon 11 of the BARD1 gene, creating a frameshift and premature translation stop signal. This variant is not expected to trigger nonsense-mediated decay. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not 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 (clinicalgenome.org). Based on the available evidence, this variant is classified as Likely Pathogenic. |
Ambry Genetics | RCV000776884 | SCV002722967 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-05-09 | criteria provided, single submitter | clinical testing | The c.2015_2016dupTT pathogenic mutation, located in coding exon 11 of the BARD1 gene, results from a duplication of TT at nucleotide position 2015, causing a translational frameshift with a predicted alternate stop codon (p.D673Lfs*42). This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation. |