Table 2 Frequency thresholds for the BS1_S, PM2_P and PM2_M criteria
Gene category | Inheritance | Criteria | ||
|---|---|---|---|---|
BS1_S | PM2_P | PM2_M | ||
Cancer genes | AD | > 0.1% | < 0.004% | absent |
AR, AD/AR or XL | > 1% | < 0.04% | < 0.004% | |
Remaining genes | AD | > 0.1% | < 0.001% | absent |
AR, AD/AR or XL | > 1% | < 0.01% | < 0.001% | |