The true frequency of clinical features in individuals with a PTEN pathogenic variant is currently not known.r
The rate of pathogenic variants that arise de novo rather than being inherited is unknown.
Heritable PTEN pathogenic variants are estimated to affect about 1 in 200,000 individuals, although this may be an underestimate given the difficulty in diagnosis presented by this highly variable disease and the fact that many component features in and of themselves can occur in the general population.r
Cleveland score ≥15 gives 10% mutation rate in the Eng cohortr although this has not been validated in an independent dataset.