Table 1.
Pathogenicity for POLD1 variants according to different prediction tools with investigated variants are in bold.
| Prediction tool | |||||
|---|---|---|---|---|---|
| Variant | References | PON-P2 | PolyPhen-2 | PROVEAN | Mutation assessor |
|
p.G10V c.29G > T |
17 | Unknown (0.398) | Benign (0.041) | Neutral (− 1.407) | Neutral (0.55) |
|
p.V295M c.883G > A |
16 | Unknown (0.703) | Benign (0.410) | Neutral (0.412) | Neutral (0.09) |
|
p.D316H c.946G > C |
16 | Pathogenic (0.941) | Probably damaging (1.000) | Deleterious (− 6.857) | High (3.69) |
|
p.D316G c.947A > G |
16 | Pathogenic (0.919) | Probably damaging (1.000) | Deleterious (− 6.857) | High (3.69) |
|
p.P327L c.981C > G |
14 | Pathogenic (0.947) | Probably damaging (0.999) | Deleterious (− 9.824) | High (3.74) |
|
p.S370R c.1110C > G |
14 | Unknown (0.560) | Benign (0.407) | Deleterious (− 4.259) | Medium (3.115) |
|
p.R409W c.1225C > T |
16 | Pathogenic (0.963) | Probably damaging (1.000) | Deleterious (− 7.859) | High (3.74) |
|
p.G426S c.1276G > A |
14 | Unknown (0.237) | Benign (0.042) | Neutral (− 0.579) | Neutral (− 0.485) |
|
p.L474P c.1421T > C |
15,16 | Pathogenic (0.937) | Probably damaging (1.000) | Deleterious (− 6.735) | High (3.74) |
|
p.S478N c.1433G > A |
14–16 | Pathogenic (0.759) | Probably damaging (0.998) | Deleterious (− 2.820) | High (4.215) |
|
p.R506H c.1517G > A |
17 | Pathogenic (0.955) | Possibly damaging (0.755) | Deleterious (− 4.922) | Medium (2.86) |
|
p.R521Q c.1562G > A |
16 | Pathogenic (0.957) | Possibly damaging (0.816) | Deleterious (− 3.464) | Medium (3.255) |
|
p.R689W c.2065C > T |
17 | Pathogenic (0.973) | Probably damaging (0.987) | Deleterious (− 7.978) | High (4.56) |
|
p.S746I c.2237G > T |
17 | Unknown (0.475) | Benign (0.143) | Deleterious (− 3.178) | Medium (2.92) |