Table 1 Identified PNKP variants.
P1 and P2 | P1 and P2 | P3 | P3 and P4 | P4 | |
|---|---|---|---|---|---|
Chromosomal position | chr19:50368580G>A | chr19:50368384C>T | chr19:50368571A>G | chr19:50365626A>G | chr19:50370311C>G |
c-codea | c.302C>T | c.498G>A | c.311T>C | c.1029+2T>C | c.151G>C |
r-code | r.199_498del | r.[937_1029del,936_937ins936+1_937-1] | r.[151g>c,151_152ins151+1_152-1] | ||
p-codeb | p.(Pro101Leu) | p.Leu67_Lys166del | p.(Leu104Pro) | p.[Phe313_Pro343del, Leu312_Phe313ins*18] | p.[Val51Leu, Val51Argfs*68] |
Effect | Missense variant | Splice region variant and synonymous variant | Missense variant | Splice donor variant and intron variant | Missense variant and splice region variant |
InterVar | Uncertain significance | Uncertain significance | Uncertain significance | Pathogenic | Uncertain significance |
ACMG | Likely pathogenic | Likely pathogenic | Uncertain significance | Likely pathogenic | Uncertain significance |
Evidence | PS4_MOD; PM1_SUP; PM2_SUP; PM3; PP3 | PVS1_STR; PM1_SUP; PM2_SUP | PM2_SUP; PM3; PP3 | PVS1_STR; PM3_SUP; PS4_MOD; PM2_SUP | PM2_SUP; PM3; PP3 |
