Gene | ACMG | dbSNP ID | Sequence change | Type | ClinVar | MAF | Pathogenicity | Patient ID | Reference | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
cDNA | AA | P/B | CADD | VEST | SIFT | PolyPhen | GERP++ | ||||||||
AIRE | VUS-P (PM2, BS2, PP3) | rs150634562 | c.901G > A | V301M | Missense | VUS | < 0.01 | 22/4 | 25 | 0.53 | 0.02 | 0.95 | 3.86 | P42 | [17] |
ATM | VUS (PM2, BP4) | rs762998620 | c.680 C > T | S227L | Missense | VUS | < 0.01 | 4/22 | 23 | 0.19 | 0.04 | 0.01 | 4.45 | P24 | * |
ATM | VUS (BP6) | rs34640941 | c.4424 A > G | Y1475C | Missense | VUS | < 0.01 | 9/14 | 22 | 0.29 | 0.09 | 0.01 | 5.56 | P26 | * |
DAZL | VUS (PM2) | - | c.863G > A | S288N | Missense | - | - | 11/15 | 23 | 0.47 | 0.03 | - | 6.06 | P09 | * |
DAZL | VUS-LP (PM2) | rs1360420397 | c.380G > A | R127H | Missense | - | < 0.01 | 15/12 | 25 | 0.52 | 0.04 | 0.70 | 5.11 | P36 | * |
EIF2B2 | VUS-LP (PM2, PP2) | rs150617429 | c.380 C > G | A127G | Missense | VUS | < 0.01 | 12/14 | 22 | 0.27 | 0.06 | 0.01 | 5.36 | P22 | [18] |
GDF9 | VUS (PM2, BP4) | rs1321340406 | c.958G > A | G320S | Missense | - | < 0.01 | 3/24 | 17 | 0.08 | 0.31 | 0.02 | 3.85 | P20 | * |
LHCGR | VUS-LP (PM2, PP3) | rs746197082 | c.211G > C | G71R | Missense | - | < 0.01 | 22/6 | 25 | 0.78 | 0.05 | 1 | 5.89 | P05 | |
POLG | VUS-P (PP2, PP3, PP5, BS2) | rs61752784 | c.803G > C | G268A | Missense | VUS | < 0.01 | 10/2 | 25 | 0.99 | 0 | 1 | 5.48 | P18, P20 | [21] |
USP9X | VUS-LP (PM2) | - | c.6722T > C | V2241A | Missense | - | - | 16/9 | 24 | 0.72 | 0 | - | 5.56 | P03 | * |
XPNPEP2 | VUS-LP (PM2) | - | c.828delT | F276Lfs*12 | Frameshift | - | - | 1/0 | - | 0.29 | - | - | 5.78 | P04 | * |
XPNPEP2 | VUS-LP (BP1, BP4, PM2) | rs1308764609 | c.460G > A | V154M | Missense | - | < 0.01 | 21/4 | 22 | 0.52 | 0 | 0.99 | 4.5 | P19 | * |