Table 3. Variants with uncertain significance in genes identified in patients with non-obstructive azoospermia and their clinical characteristics.
| Gene symbol (OMIM number) | Patient code | Notes | FSH (IU/l) | Testis histology | Left/right testicular volume (mL) | Nucleotide change | Amino acid change | rs ID | Minor allele frequency (%) |
|---|---|---|---|---|---|---|---|---|---|
| CATSPER1 (606389) | 143808128 | Varicocele | NA | Mixed atrophy | NA | NM_053054.4:c.1270T>C | NP_444282.3:p.Trp424Arg | rs139761671 | 0.006 |
| CFAP44 (617559) | 115748838 | Idiopathic | N | Hypospermatogenesis | NA | NM_018338.3:c.2202_2204del | NP_060808.2:p.Glu737del | rs749873759 | - |
| DNAH1 (603332) | 111008936 | Idiopathic | 7.9 | Hypospermatogenesis | NA | NM_015512.5:c.4739C>G | NP_056327.4:p.Ala1580Gly | rs754588837 | 0.0008 |
| DPY19L2 (613893) | 125687856 | Idiopathic | N | Hypospermatogenesis | NA | NM_173812.5:c.1025A>C | NP_776173.3:p.Gln342Pro | - | - |
| NANOS1 (608226) | 105816704 | Varicocele | 8.7 | Hypospermatogenesis | NA | NM_199461.4:c.830_833del | NP_955631.1:p.Pro277Argfs*73 | rs746095721 | 0.002 |
| 131919035 | Varicocele | 26.05 | Mixed atrophy | NA | NM_199461.4:c.830_833del | NP_955631.1:p.Pro277Argfs*73 | rs746095721 | 0.002 | |
| PLK4 (605031) | 100132259 | Varicocele | 6.3 | Hypospermatogenesis | NA | NM_014264.5:c.17G>A | NP_055079.3:p.Gly6Glu | rs149003893 | 0.1 |
| 113090176 | Varicocele | 18 | Mixed atrophy | 3.5/3.5 | NM_014264.5:c.17G>A | NP_055079.3:p.Gly6Glu | rs149003893 | 0.1 | |
| SYCE1 (611486) | 163680875 | Idiopathic | N | Hypospermatogenesis | NA | NM_130784.3:c.52G>C | NP_570140.1:p.Glu18Gln | rs756386589 | 0.003 |
| SYCP3 (604759) | 130059718 | Varicocele | 27.3 | SCOS | 7.5/10 | NM_001177948.1:c.643del | NP_001171419.1:p.Ile215Leufs*2 | rs761136347 | 0.004 |
| SUN5 (613942) | 111008936 | Idiopathic | 7.9 | Hypospermatogenesis | NA | NM_080675.4:c.476G>A | NP_542406.2:p.Arg159Gln | rs144823079 | 0.09 |
| TEX11 (300311) | 125687856 | Idiopathic | N | Hypospermatogenesis | NA | NM_001003811.2:c.2186-6_2186-3del | - | - | - |
| TEX15 (605795) | 148743930 | Idiopathic | 23 | SCOS | NA | NM_001350162.2:c.541-4_541-3del | - | rs35279485 | 0.003 |
| 100132259 | Varicocele | 6.3 | Hypospermatogenesis | NA | NM_001350162.2:c.541-4_541-3del | - | rs35279485 | 0.003 | |
| USP9Y (400005) | 122354337 | Idiopathic | NA | Maturation arrest | NA | NM_004654.4:c.7434+14del | - | rs760325957 | 0.004 |
| 125687856 | Idiopathic | N | Hypospermatogenesis | NA | NM_004654.4:c.7434+14del | - | rs760325957 | 0.004 | |
| 128766983 | Idiopathic | N | Mixed atrophy | NA | NM_004654.4:c.6574del | NP_004645.2:p.Ala2192Glnfs*7 | - | - | |
| 128766983 | Idiopathic | N | Mixed atrophy | NA | NM_004654.4:c.7434+14del | - | rs760325957 | 0.004 | |
| 130424034 | Idiopathic | 28.9; 37 | Mixed atrophy | 12.6/7 | NM_004654.4:c.7434+14del | - | rs760325957 | 0.004 | |
| 148743930 | Idiopathic | 23 | SCOS | NA | NM_004654.4:c.7434+14del | - | rs760325957 | 0.004 | |
| 151184989 | Idiopathic | 28.9 | SCOS/mixed atrophy | N | NM_004654.4:c.7434+14del | - | rs760325957 | 0.004 | |
| 156833670 | Idiopathic | NA | Hypospermatogenesis/ mixed atrophy | N | NM_004654.4:c.7434+14del | - | rs760325957 | 0.004 | |
| 125938310 | Cryptorchidism | NA | Hypospermatogenesis | NA | NM_004654.4:c.449T>C | NP_004645.2:Ile150Thr | - | - | |
| 125938310 | Cryptorchidism | NA | Hypospermatogenesis | NA | NM_004654.4:c.7434+14del | - | rs760325957 | 0.004 | |
| 141879319 | Cryptorchidism | 11.3 | Mixed atrophy | Smaller than normal | NM_004654.4:c.7434+14del | - | rs760325957 | 0.004 | |
| USP9Y (400005) | 142201659 | Cryptorchidism | 26 | SCOS/Mixed atrophy | N/ Smaller than normal | NM_004654.4:c.7434+13_7434+14del | - | - | - |
| 143296311 | Cryptorchidism | NA | Hypospermatogenesis | NA | NM_004654.4:c.7434+14dup | - | rs760325957 | 0.08 | |
| 114516827 | Varicocele | N | Mixed atrophy | NA | NM_004654.4:c.7434+14del | - | rs760325957 | 0.004 | |
| 114709776 | Varicocele | N | Mixed atrophy | NA | NM_004654.4:c.7434+14del | - | rs760325957 | 0.004 | |
| 143808128 | Varicocele | NA | Mixed atrophy | NA | NM_004654.4:c.7434+14dup | - | rs760325957 | 0.08 | |
| ZMYND15 (614312) | 101797172 | Idiopathic | 6.39 | SCOS | NA | NM_001136046.3:c.1262G>A | NP_001129518.1:p.Arg421Gln | rs748907962 | 0.005 |
| 163680875 | Idiopathic | N | Hypospermatogenesis | NA | NM_001136046.3:c.1260_1262del | NP_001129518.1:p.Arg421del | rs866053815 | 0.0004 | |
| ZPBP (608498) | 120151485 | Idiopathic | 20 | SCOS | Smaller than normal | NM_007009.3:c.128-6del | - | rs202222027 | 0.02 |
OMIM: Online Mendelian Inheritance in Man, FSH: follicle stimulating hormone, NA: not assessed, N: normal, SCOS: Sertoli cell only syndrome, -: not available.