Table IV.
Variants of RYR2 and PLXNB2 identified in euploid miscarriage tissues.
| Gene name | Case ID | Position | cDNA change | AAChange | Variant ID | Nhet. | ExAC | gnomAD | SIFT | PPH2 | LRT | MutationTaster | CADD | GER | ACMG |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RYR2 | 71 | chr1:237494211 | c.G202C | p.V68L | rs752526125 | 1/113 | 0 | 0 | D | B | D | 23 | 4.35 | VUS | |
| RYR2 | 116 | chr1:237730053 | c.C3401G | p.A1134G | 1/113 | 0 | D | B | D | D | 33 | 5.29 | VUS | ||
| RYR2 | 65,120 | chr1:237777856 | c.G5428C | p.V1810L | rs754364233 | 2/113 | 0.0012 | 0.0012 | D | P | N | D | 23.1 | 5.62 | VUS |
| RYR2 | 7 | chr1:237806708 | c.G7303T | p.V2435F | rs188835713 | 1/113 | 0.0001 | 5.80E−05 | D | D | N | D | 24.2 | 3.53 | VUS |
| RYR2 | 45 | chr1:237824228 | c.G8417A | p.R2806H | rs955927781 | 1/113 | 0 | D | D | D | D | 33 | 5.46 | VUS | |
| RYR2 | 95 | chr1:237870428 | c.C9760A | p.P3254T | 1/113 | D | B | D | D | 26.6 | 5.72 | VUS | |||
| RYR2 | 114 | chr1:237947871 | c.T12859C | p.Y4287H | rs190009333 | 1/113 | 0 | 0 | D | D | D | D | 23.5 | 5.11 | VUS |
| PLXNB2 | 29,43,68,75 | chr22:50717060 | c.C4612T | p.R1538W | rs182970183 | 4/113 | 0.0076 | 0.0073 | D | D | D | D | 34 | 4.48 | VUS |
| PLXNB2 | 109 | chr22:50721219 | c.G2908A | p.V970M | rs569852454 | 1/113 | 0.0015 | 0.0015 | T | D | N | N | 23.1 | 2.65 | VUS |
| PLXNB2 | 111 | chr22:50724504 | c.G1901A | p.R634H | rs144108995 | 1/113 | 0 | 0 | T | P | N | D | 23.1 | 1.99 | VUS |
ACMG, American College of Medical Genetics and Genomics, B, Benign; D, deleterious; Nhet, number with heterozygous variant; P, possibly damaging; T, tolerated, VUS, variant of uncertain significance.