Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001027117 | SCV001189623 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-08-15 | criteria provided, single submitter | clinical testing | The c.8052_8055delGTCA pathogenic mutation, located in coding exon 54 of the ATM gene, results from a deletion of 4 nucleotides at nucleotide positions 8052 to 8055, causing a translational frameshift with a predicted alternate stop codon (p.Q2684Hfs*8). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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 | RCV001057885 | SCV001222406 | pathogenic | Ataxia-telangiectasia syndrome | 2020-03-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant has not been reported in the literature in individuals with ATM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln2684Hisfs*8) in the ATM gene. It is expected to result in an absent or disrupted protein product. |
Myriad Genetics, |
RCV003455139 | SCV004186011 | pathogenic | Familial cancer of breast | 2023-11-08 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |