Table 1 Summary of identified variants
From: Identification of novel variants and candidate genes in women with 46,XX complete gonadal dysgenesis
Age of presentation | FSH | LH | E2 | Breast | Gene | Nucleotide Change | Amino Acid Change | Zygosity | ACMG Classification | Allelic Frequency | Inheritance pattern | Previous reported | PolyPhen-2 | PROVEAN | SIFT | Mutation Taster | Splice AI | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P1 | 13 | 89.1 | 31 | <25 | I | MCM9 | c.1151-1G> A | Splice site | Hom | LP(PVS1+PM2_Supporting) | 0 | AR/Parental | Yes | - | - | - | - | Splice-altering(0.92) |
P2 | 15 | 50.2 | 35.5 | <15 | II | TWNK | c.1814delT | p.Val605Glyfs Ter10 | Het | LP(PVS1+PM2) | 0 | AR/Matenal | New | - | - | - | D | - |
c.-722G> T | 5’ UTR | Het | Vus(PM2) | 0.02% | AR/ Paternal | New | - | - | - | - | - | |||||||
P3 | 14 | 105.77 | 53.61 | <5 | II | TP63 | c.1928G> A | p.Arg643Gln | Het | LP(PS2+PM2+PP3) | 0 | AD/De novo | Yes | D (0.979) | N (-1.1) | D (0.006) | D | - |
P4 | 15 | 63.07 | 21.43 | <15 | II | TP63 | c.1925T> G | p.Val642Gly | Het | Vus(PM2) | 0 | AD/De novo | New | D (1) | D (-2.53) | D (0.002) | D | - |
P5 | 16 | 59.16 | 33.1 | 51 | II | INSRR | c.2217–2 A> C | Splice site | Het | LP(PVS1+PM2) | 0 | -/Paternal | New | - | - | - | - | Splice-altering |
P6 | 16 | 73.1 | 21.9 | <15 | II | POF1B | C.932 A> C | P.Lys311Thr | Hom | VUS(PM2-Supporting+PP3) | 0 | XLK/Paternal | Yes | D (0.971) | D (-3.26) | D (0.000) | D | - |
P7 | 15 | 97.63 | 26.78 | 20 | II | PSMC3IP | c.77 A> C | p. Gln26Pro | Hom | Vus(PM2+PP3) | 0 | AR/- | New | D (0.952) | D (-4.14) | D (0.019) | D | - |