Association between cumulative scores predicting consequence of a missense change and telomerase functional analysis as well as association with a hereditary clinical phenotype
| Variant characteristics . | Score 0 to 1 . | Score 1.5 to 2 . | Sum of variants with scores of 0 to 2 . | Score 2.5 to 3 . | Score 3.5 to 4 . | Sum of variants with scores of 2.5 to 4 . |
|---|---|---|---|---|---|---|
| Reported in pedigree (2 or more relatives) | 3 | 3 | 3 | 2 | ||
| Telomerase activity no higher than 80% | 1 | 2 | 3 | 2 | ||
| Number of variants reported in pedigree and with reduced telomerase activity | 4 | 5 | 9 | 6 | 4 | 10 |
| Not reported in pedigree | 0 | 0 | 1 | 1 | ||
| Telomerase activity more than 80% | 3 | 0 | 0 | 0 | ||
| Number of variants not reported in a pedigree and with normal telomerase activity | 3 | 0 | 3 | 1 | 1 | 2 |
| Variant characteristics . | Score 0 to 1 . | Score 1.5 to 2 . | Sum of variants with scores of 0 to 2 . | Score 2.5 to 3 . | Score 3.5 to 4 . | Sum of variants with scores of 2.5 to 4 . |
|---|---|---|---|---|---|---|
| Reported in pedigree (2 or more relatives) | 3 | 3 | 3 | 2 | ||
| Telomerase activity no higher than 80% | 1 | 2 | 3 | 2 | ||
| Number of variants reported in pedigree and with reduced telomerase activity | 4 | 5 | 9 | 6 | 4 | 10 |
| Not reported in pedigree | 0 | 0 | 1 | 1 | ||
| Telomerase activity more than 80% | 3 | 0 | 0 | 0 | ||
| Number of variants not reported in a pedigree and with normal telomerase activity | 3 | 0 | 3 | 1 | 1 | 2 |