Table 1 Evaluation of pathogenicity of the germline CDKN2A variants detected in the familial pancreatic cancer patients
Case 1 | Case 2 | ||
|---|---|---|---|
Germline CDKN2A variant | c.150G> T (p.Gln50His) | c.67G> T (p.Gly23Cys) | |
rs No. | rs1057519882 | rs1131691186 | |
Location (GRCh37) | chr9: 21,974,677 | chr9: 21,974,760 | |
Interpretation of pathogenicity | |||
ClinVar [review status] | Uncertain significance [★★☆☆] | Conflicting interpretations Likely pathogenic (4); Uncertain significance (1) [★☆☆☆] | |
HGMD | No registration | Disease causing mutation | |
ACMG guideline | Likely Pathogenic (PM1, PM2, PM5, PP3) | Likely Pathogenic (PM1, PM2, PM5, PP3) | |
Registered clinical laboratory | Uncertain significance | Likely pathogenic | |
Minor allele frequency | jMorp8.3 | No registration | No registration |
gnomAD | No registration | No registration | |
in silico analysis (score) | Polyphen2 | Pathogenic Supporting (0.962) | Pathogenic Supporting (0.999) |
SIFT | Pathogenic Supporting (0.089) | Pathogenic Supporting (0) | |
M-CAP | Pathogenic Supporting (0.495) | Pathogenic Moderate (0.765) | |