Table 2 Clinical interpretation of variants detected in CSNK2B by ACMG guideline25.
From: Germline de novo variants in CSNK2B in Chinese patients with epilepsy
Case | Variant (NM_001320) | Evidence for pathogenicity based on ACMG guideline | Category | |||
|---|---|---|---|---|---|---|
Very strong | Strong | Moderate | Supporting | |||
1 | c.560 T > G (p.L187R) | / | PS2 | PM2 | PP3 + PP4 | LP |
2 | c.620_621insC (p.F207Ffs*39) | PVS1 | PS2 | PM2 | PP4 | P |
3 | c.13 G > T (p.E5X,211) | PVS1 | PS2 | PM2 | PP4 | P |
4 | c.409 T > G (p.C137G) | / | PS2 | PM1 + PM2 | PP3 + PP4 | P |
5 | c.264delC (p.I88Ifs*46) | PVS1 | PS2 | PM2 | PP4 | P |
6 | c.410 G > T (p.C137F) | / | PS2 | PM1 + PM2 | PP3 + PP4 | P |
7 and 8 | c.332 G > C (p.R111P) | / | PS2 | PM1 + PM2 | PP3 + PP4 | P |
9 | c.368-2 A > G | PVS1 | PS2 | PM2 | PP4 | P |
