| RNASEL M1I | insufficiently evaluated pathogenic, f=0.000 | unknown |
(32 web hits) | |
| RNASEL I97L | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 |
| RNASEL I101T | insufficiently evaluated not reviewed, f=0.000 | unknown |
| var-GS07357-1100-36-ASM |
| RNASEL E265X | uncertain pathogenic, f=0.003 | dominant | Implicated in causing familial prostate cancer, but later findings fail to confirm this. The variant is equally common in the control population, which strongly contradicts the original hypothesis of a high penetrance effect. If the variant has any effect on prostate cancer it seems likely to be low penetrance (any evidence for this is, however, very weak).
(116 web hits) | |
| RNASEL R462Q | uncertain pathogenic, f=0.278 | other | Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.
(978 web hits) | CGI sample GS00253-DNA_E01_200_37 |
| RNASEL D541E | insufficiently evaluated none, f=0.475 | unknown |
(95 web hits) | CGI sample GS00253-DNA_E01_200_37 (hom) |