Table 4.
Allele frequencies of mannose-binding lectin 2 variants.
| Gene | Variant on cDNA level |
Protein effect |
ACMG | GnomAD v4.0 | SIDS variant/ total alleles |
p | Infection variant/ total alleles |
p |
|---|---|---|---|---|---|---|---|---|
| MBL2 | c.154C>T | p.Arg52Cys | RF | 0.06 | 5/104 = 0.05 | ns | 9/54 = 0.17 | 0.02 |
| MBL2 | c.161G>A | p.Gly54Asp | RF | 0.14 | 11/104 = 0.11 | ns | 9/54 = 0.17 | ns |
| MBL2 | c.170G>A | p.Gly57Glu | 2 | 0.03 | 5/104 = 0.08 | ns | 0 | NA |
ACMG, The American College of Medical Genetics and Genomics’ variant classification; GnomAD v4.0, genome aggregation database version 4.0; SIDS, sudden infant death syndrome; MBL2, mannose-binding lectin 2; RF, risk factor; 2, likely benign; p, p-value; ns, not significant; NA, not applicable. The p-value in this table refers to the difference in allele frequencies between the general population and the respective cohorts.