Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001027165 | SCV001189677 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2020-04-03 | criteria provided, single submitter | clinical testing | The c.8099_8102delATCA variant, located in coding exon 15 of the APC gene, results from a deletion of 4 nucleotides at nucleotide positions 8099 to 8102, causing a translational frameshift with a predicted alternate stop codon (p.N2700Rfs*22). This alteration is expected to result in loss of function by premature protein truncation; however, this frameshift occurs at the 3' terminus of APC, is not expected to trigger nonsense-mediated mRNA decay, and impacts only the last 144 amino acids of the protein. The exact functional impact of these altered amino acids is unknown at this time. Based on the majority of available evidence to date, this variant is likely to be pathogenic. |