Table 1 The PALB2 variants with in silico assessment by prediction tools.
Location | DNA change | Protein change | Number of heterozygotes in all BCa cases (%) | Number of heterozygotes in Familial BCa cases (%) | Number of heterozygotes in Sporadic BCa cases (%) | SIFT prediction | Align GVGD prediction | Polyphen-2 prediction |
|---|---|---|---|---|---|---|---|---|
Exon 1 | c.47 A > T | p.K16M | 1 (0.04) | - | 1 (0.05) | Damaging (0) | Class C0 | Probably Damaging (1) |
Exon 2 | c.72 G > C | p.L24F | 1 (0.04) | 1 (0.33) | - | Damaging (0) | Class C15 | Probably Damaging (1) |
Exon 2 | c.103 C > T | p.L35F | 1 (0.04) | 1 (0.33) | - | Damaging (0) | Class C15 | Probably Damaging (1) |
Exon 4 | c.457 A > T | p.R153W | 1 (0.04) | - | 1 (0.05) | Damaging (0.01) | Class C0 | Probably Damaging (0.997) |
Exon 4 | c.1213 C > G | p.P405A | 13 (0.57) | 3(0.98) | 10 (0.51) | Damaging (0) | Class C25 | Probably Damaging (1) |
Exon 5 | c.1884G > T | p.K628N | 1 (0.04) | - | 1 (0.05) | Damaging (0.02) | Class C0 | Probably Damaging (0.998) |
Exon 5 | c.1987C > T | p.R663C | 1 (0.04) | - | 1 (0.05) | Damaging (0) | Class C15 | Probably Damaging (0.995) |
Exon 10 | c.3035 C > T | p.T1012I | 4 (0.18) | 1 (0.33) | 3 (0.15) | Damaging (0) | Class C15 | Probably Damaging (1) |
Exon 10 | c.3054 G > C | p.E1018D | 33 (1.45) | 4 (1.30) | 29 (1.47) | Damaging (0.02) | Class C0 | Probably Damaging (0.998) |
Exon 12 | c.3296 C > T | p.T1099M | 2 (0.08) | - | 2 (0.10) | Damaging (0) | Class C15 | Probably Damaging (1) |
