Table 2.
Genetics variants found in the analysis of 25 samples.
| Sample | Gender | Phenotype | Gene | Nucleotide variant | Amino acid variant | Category |
|---|---|---|---|---|---|---|
| 1 | F | POI | MCM8 | c.-5-7C>T | - | VUS |
| 2 | F | Secondary amenorrhea | GDF9 | c.1360C>T | p.Arg454Cys | Likely pathogenic |
| 3 | F | POI | MCM9 | c.3223C>T | p.Pro1075Ser | VUS |
| STAG3 | c.1467+3G>A | - | VUS | |||
| 4 | F | POI | SOHLH1 | c.835G>A | p.Glu279Lys | VUS |
| 5 | F | POI | - | - | - | - |
| 6 | M | Male control | - | - | - | - |
| 7 | F | POI | - | - | - | - |
| 8 | F | Female control | - | - | - | - |
| 9 | M | CFTR control | CFTR | c.1521_1523delCTT | p.Phe508del | Pathogenic |
| CFTR | c.3718-2477C>T | - | Pathogenic | |||
| 10 | M | CFTR control | CFTR | 5T allele † | - | * |
| 11 | M | Severe asthenozoospermia | - | - | - | - |
| 12 | F | POI | - | - | - | - |
| 13 | F | POI | F2 | c.*97G>A | - | Pathogenic |
| REC8 | c.492_512delAGAGAGAGTTGAAGAGATCCC | p.Glu165_Pro171del | VUS | |||
| 14 | F | POI | FOXO3 | c.76A>T | p.Ser26Cys | VUS |
| FOXO3 | c.246_251delCGGCGG | p.Gly83_Gly84del | VUS | |||
| 15 | F | POI | - | - | - | - |
| 16 | F | POI | - | - | - | - |
| 17 | F | Recurrent pregnancy loss | CFTR | 5T allele † | - | - |
| 18 | F | Recurrent pregnancy loss | F2 | c.598G>A | p.Glu200Lys | VUS |
| 19 | M | NOA | CFTR | 5T allele † | - | - |
| 20 | F | POI | STAG3 | c.1640A>G | p.Glu547Gly | VUS |
| 21 | F | Embryo arrest | CFTR | 5T allele † | - | - |
| 22 | F | Idiopathic infertility | F2 | c.*97G>A | - | Pathogenic |
| 23 | M | Oligoasthenoteratozoospermia | AR | c.2395C>G | p.Gln799Glu | Likely pathogenic |
| 24 | F | Idiopathic infertility | CFTR | c.224G>A | p.Arg75Gln | VUS |
| CAPN10 | c.1663C>T | p.Arg555Cys | VUS | |||
| 25 | M | NOA | NANOS1 | c.100C>A | p.Pro34Thr | VUS |
†
c.1210-7_1210-6delTT, commonly known as 5T allele.
VUS: variant of uncertain significance