Table 2.
Frequency of ATM LOF/VUS variants in the study cohort and in the gnomAD database.
| Study cohort | gnomAD NFE | ORa (95% CI) | p value | |||
|---|---|---|---|---|---|---|
| N variant alleles/total alleles | AF | N variant alleles/total alleles | AF | |||
| a. LOF | ||||||
| All | 20/4,208 | 0.005 | 237/129,206 | 0.002 | 2.6 (1.56–4.11) | 2.2e-04 |
| Fam + MPM | 14/2,576 | 0.0054 | 2.97 (1.6-5.09) | 4.9e-04 | ||
| b. VUS | ||||||
| All | 192/4,208 | 0.046 | 4,268/129,206 | 0.033 | 1.41 (1.21–1.64) | 1.03E-02 |
| Fam + MPM | 135/2,576 | 0.053 | 1.63 (1.36–1.94) | 3.06E-04 | ||
AF allele frequency, CI confidence interval, LOF loss-of-function, NFE non-Finnish European, OR odds ratio, VUS variants of uncertain significance.
aOdds of finding the variants in the study cohort compared to the odds of finding the variants in the gnomAD NFE cohort.