Table 2 PTCH1 variants of 15 NBCCS patients.
Case | Sex/age | DNA variants | Protein alteration | Location | Variant type | Classification | ACMG criteria | References |
|---|---|---|---|---|---|---|---|---|
1 | F/9 | del 9q22.31–q22.33 | Whole gene | Gross deletion | Pathogenic | Matsudate et al.17 | ||
2 | M/37 | Exon 13–15 deletion | Exon 13–15 | Partial deletion | Pathogenic | Novel | ||
3 | M/56 | c.290delA | p.Asn97Thrfs*20 | Exon 2 | Frameshift | Pathogenic | PVS1, PM2, PP5 | Wilson et al.18 |
4 | F/62 | c.403C > T | p.Arg135* | Exon 3 | Nonsense | Pathogenic | PVS1, PM2, PP5 | Wicking et al.19 |
5 | F/22 | c.403C > T | p.Arg135* | Exon 3 | Nonsense | Pathogenic | PVS1, PM2, PP5 | Wicking et al.19 |
6 | F/66 | c.1347 + 1G > A | p.? | Intron 9 | Splice site | Pathogenic | PVS1, PM2, PP5 | Reinders et al.20 |
7 | F/38 | c.1347 + 1G > A | p.? | Intron 9 | Splice site | Pathogenic | PVS1, PM2, PP5 | Reinders et al.20 |
8 | F/24 | c.1847G > A | p.Ser616Asn | Exon 13 | Missense | VUS | PM2, PP3 | Novel |
9 | M/13 | c.2251-3C > G | p.? | Intron 14 | Splice site | VUS | PM2, PP3, BS3 | Sun JS et al.21 |
10 | F/35 | c.2415dup | p.Val806Serfs*23 | Exon 15 | Frameshift | Likely pathogenic | PVS1, PM2 | Novel |
11 | F/20 | c.2422C > T | p.Gln808* | Exon 15 | Nonsense | Likely pathogenic | PVS1, PM2 | Waszak et al.22 |
12 | F/34 | c.2560 + 7C > T | p.? | Intron 15 | Splice region | Likely benign | BS1, BP6 | rs75576651 |
13 | F/19 | c.2678G > A | p.Arg893His | Exon 16 | Missense | Likely benign | BS1, BP6 | Tate et al.23 |
14 | F/19 | c.2802T > A | p.Tyr934* | Exon 17 | Nonsense | Likely pathogenic | PVS1, PM2 | Novel |
15 | M/60 | c.3467T > G | p.Leu1156Arg | Exon 21 | Missense | Likely pathogenic | PM2, PM6, PP3, PP5 | Gianferante et al.24 |
