Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001023626 | SCV001185535 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-09-12 | criteria provided, single submitter | clinical testing | The c.5153_5155delCAG variant (also known as p.A1718del) is located in coding exon 15 of the APC gene. This variant results from an in-frame CAG deletion at nucleotide positions 5153 to 5155. This results in the in-frame deletion of an alanine at codon 1718. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |