Table 3.
Classification of genetic variants according to their MAF and their ACMG pathogenicity criteria.
| Gene | Frequencies of variants in 100 genome all populations database | ||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MAF > 0.05 | 0 < MAF < 0.05 | MAF = 0 | |||||||||||||
| B | LB | VUS | LP | P | B | LB | VUS | LP | P | B | LB | VUS | LP | P | |
|
TNFSF13B 6 variants |
1 | 2 | 1 | 1 | 1 | ||||||||||
|
TNFSF13 12 variants |
3 | 2 | 4 | 2 | 1 | ||||||||||
|
TNFRSF13B 21 variants |
5 | 1 | 1 | 3 | 1 | 1 | 2 | 1 | 1 | 4 | 1 | ||||
|
TNFRSF13C 9 variants |
1 | 2 | 3 | 1 | 1 | 1 | |||||||||
|
TNFRSF17 4 variants |
2 | 1 | 1 | ||||||||||||
|
Total 52 variants |
12 | 1 | 3 | 9 | 9 | 2 | 2 | 1 | 1 | 4 | 7 | 1 | |||
ACMG American College of Medical Genetics and Genomics, MAF minor allele frequency, B benign, LB likely benign, VUS variant of uncertain significance, LP likely pathogenic, P pathogenic.