Table 1 Allele burden calculation for sequential probands with hematopoietic malignancy receiving clinical germline testing versus control allele frequencies from gnomAD population database.
From: Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants
Sequential probands with hematopoietic malignancy and clinical germline testing | Control population (gnomAD v4.1.0) | Hematopoietic Malignancy vs. gnomAD | Sig. | |||
|---|---|---|---|---|---|---|
Variant | Proportion with variant | Variant Frequency | Allele Number (heterozygous) | Allele Frequency | OR [95% Cl] | P |
p.I157T | 15 variants | 0.01763 | 4,421 variants | 0.00274 | 6.44 [3.86–10.73] | <0.001 |
(c.470 T > C) | 851 tests | 1,614,104 alleles | ||||
p.S428F | 4 variants | 0.00470 | 441 variants | 0.00027 | 17.16 [6.40–46.03] | <0.001 |
(c.1283 C > T) | 851 tests | 1,610,148 alleles | ||||
p.T367fs | 1 variants | 0.00118 | 262 variants | 0.00172 | 0.68 [0.10–4.87] | 0.704 |
(c.1100delC) | 851 tests | 152,324 alleles | ||||
Total CHEK2 | 30 P/LP variants | 0.03525 | ||||
851 total tests | ||||||
