TABLE 2.
Homozygous and compound heterozygous variants in ZNF142 in 35 individuals
| Allele 1 | Allele 2 | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Fam | Ind a | Zygosity | Variant type | Variant description | Predicted protein | CADD score (#) | Variant type | Variant description | Predicted protein | CADD score (#) | References |
| A | 1 | Comp het | Non | c.25C > T | p.(Gln9*) | 33 | Mis | c.2288C > G | p.(Ser763Cys) | 15.26 (0.055) | Present |
| B | 2 | Comp het | Fs | c.527del | p.(Thr176Ilefs*93) | 32 | Non | c.4030C > T | p.(Arg1344*) | 39 | Present |
| C | 3,4 | Comp het | Fs | c.817_818del | p.(Lys273Glufs*32) | 32 | Fs | c.1292del | p.(Cys431Leufs*11) | 33 | Khan b |
| D | 5,6 | Comp het | Fs | c.1165_1166del | p.(Asp389Serfs*9) | 33 | Fs | c.1910del | p.(Pro637Leufs*23) | 22.7 | Present |
| E | 7,8 | Hom | Non | c.1252C > T | p.(Arg418*) | 38 | Non | c.1252C > T | p.(Arg418*) | 38 | Present |
| F | 9,10 | Comp het | Non | c.1252C > T | p.(Arg418*) | 38 | Non | c.1274‐2A > G | p.(Glu426*) | 34 | Kameyama c |
| G | 11 | Hom | Non | c.1456C > T | p.(Gln486*) | 37 | Non | c.1456C > T | p.(Gln486*) | 37 | Present |
| H | 12,13 | Comp het | Non | c.1906C > T | p.(Arg636*) | 34 | Non | c.3735del | p.(Leu1245Phefs*4) | 33 | Present |
| I | 14 | Comp het | Non | c.1906C > T | p.(Arg636*) | 34 | Mis | c.3885C > A | p.(Phe1295Leu) | 25.8 (0.266) | Present |
| J | 15 | Hom | Fs | c.2650del | p.(His884Thrfs*3) | 32 | Fs | c.2650del | p.(His884Thrfs*3) | 32 | Present |
| K | 16,17 | Comp het | Fs | c.2851del | p.(Glu951Lysfs*66) | 23.8 | Fs | c.3167dup | p.(Gly1057Argfs*11) | 21.8 | Present |
| L | 18,19,20 | Hom | Fs | c.3155dup | p.(Arg1053Thrfs*15) | 22.7 | Fs | c.3155dup | p.(Arg1053Thrfs*15) | 22.7 | Present |
| M | 21 | Hom | Non | c.3175C > T | p.(Arg1059*) | 37 | Non | c.3175C > T | p.(Arg1059*) | 37 | Khan b |
| N | 22 | Hom | Non | c.3175C > T | p.(Arg1059*) | 37 | Non | c.3175C > T | p.(Arg1059*) | 37 | Present |
| O | 23 | Hom | Fs | c.3346del | p.(Glu1116Asnfs*4) | 33 | Fs | c.3346del | p.(Glu1116Asnfs*4) | 33 | Present |
| P | 24,25,26 | Hom | Non | c.3514C > T | p.(Gln1172*) | 38 | Non | c.3514C > T | p.(Gln1172*) | 38 | Present |
| Q | 27 | Comp het | Mis | c.3698G > T | p.(Cys1233Phe) | 29.1 (0.809) | Mis | c.4498C > T | p.(Arg1500Trp) | 26 (0.606) | Khan b |
| R | 28,29,30 | Hom | Non d | c.4183_4185delinsAT | p.(Leu1395*) | 34 | Non d | c.4183_4185delinsAT | p.(Leu1395*) | 34 | Khan b |
| S | 31 | Hom | Non | c.4261C > T | p.(Gln1421*) | 39 | Non | c.4261C > T | p.(Gln1421*) | 39 | Present |
| T | 32,33 | Hom | Fs | c.4436del | p.(Pro1479Leufs*45) | 35 | Fs | c.4436del | p.(Pro1479Leufs*45) | 35 | Present |
| U | 34,35 | Hom | Non | c.4440C > G | p.(Tyr1480*) | 40 | Non | c.4440C > G | p.(Tyr1480*) | 40 | Present |
Note: ZNF142 variants are described using the NM_001105537.2 (GRCh37/hg19) transcript.
Abbreviations: Comp het, compound heterozygous; Fs, frameshift; Fam, family identification; Hom, homozygous; Non, nonsense; Mis, missense.
a
The individuals (Ind) from the same family are grouped together.
b
Reference 20.
c
Reference 21.
d
The variant was described as c.[4183del;4185G > A] in cis in the original publication (20). #, REVEL scores are also calculated for the missense variants.