No | Gene | Nucleotide change | Amino acid change | Mutation type | ACMG score | ACMG |
---|---|---|---|---|---|---|
1 | DEPDC5 | c.504delG | p.S168Sfs*10 | frame-shift variants | PVS1 + PM2 | Pathogenic |
2 | DEPDC5 | c.715C > T | p.R239X,1365 | truncation variants | PVS1 + PS1 + PM2 + PP3 | Pathogenic |
3 | DEPDC5 | c.823A > T | p.K275X,1329 | truncation variants | PVS1 + PM2 + PP3 + PP1 | Pathogenic |
4 | DEPDC5 | c.947–2(IVS14)A > G | splicing site variants | PVS1 + PM2 + PP3 | Likely pathogenic | |
5 | DEPDC5 | c.2935G > T | p.E979X,625 | truncation variants | PVS1 + PM2 + PM | Pathogenic |
6 | DEPDC5 | c.3214G > T | p.E1072X,532 | truncation variants | PVS1 + PM2 + PP3 | Pathogenic |
7 | DEPDC5 | c.4437–2(IVS41)_c.4437–1(IVS41)insG | splicing site variants | PVS1 + PM2 | Likely pathogenic |