Table 2.
Summary of Potentially Pathogenic Variants Detected in the Analyzed Case Subjects with Idiopathic Non-obstructive Azoospermia
| Position (hg38) | ID | Gene | cDNA Change | Variant Type |
gnomAD Dataseta |
Genotype |
|||
|---|---|---|---|---|---|---|---|---|---|
| MAF | Carriers | Case(s) | Mother | Father | |||||
| Variants Prioritized from the WES Dataset of the Two Estonian Brothers with NOA and SCOSb | |||||||||
| Chr3:196707729 | rs748622284 | CEP19 | c.326T>C | p.Leu109Pro | 1.80 × 10−5 | Het: 5; Hom: 0 | T/C | T/T | T/C |
| Chr11:95818897 | NA | CEP57 | c.692C>T | p.Ala231Val | NA | NA | C/T | C/C | C/T |
| Chr14:45159189 | rs761250416 | FANCM | c.1491dupA | p.Gln498Thrfs∗7 | 7.22 × 10−5 | Het: 20; Hom: 0 | A/AA | A/AA | A/A |
| Chr14:45183764 | NA | FANCM | c.4387−10A>G | p.Arg1436_Ser1437insLeuLeu∗ | NA | NA | A/G | A/A | A/G |
| Variant Identified in the Estonian NOA-Affected Case Subject 3 using WES | |||||||||
| Chr14:45189123 | rs147021911 | FANCM | c.5101C>T | p.Gln1701∗ | 1.34 × 10−3 | Het: 370; Hom: 1 | T/T | NA | NA |
| Variant Identified in the Portuguese Case Subject 4 using Targeted Candidate Gene Analysis among 296 NOA-Affected Case Subjects | |||||||||
| Chr14:45198718 | rs144567652 | FANCM | c.5791C>T | p.Arg1931∗ | 1.03 × 10−3 | Het: 285; Hom: 0 | T/T | NA | NA |
Abbreviations: MAF, minor allele frequency; NA, not available; NOA, non-obstructive azoospermia; SCOS, Sertoli cell-only syndrome; WES, whole-exome sequencing.
a
138,610; 138,516; 138,488; and 138,536 exome datasets for CEP19 p.Leu109Pro, FANCM p.Gln498Thrfs∗7, FANCM p.Gln1701∗, and FANCM p.Arg1931∗, respectively.
b
Both index brothers (B.1, B.2) have identical heterozygous genotype for these four variants.