Summary of the consequences of the various intronic variants detected at RNA level
| Kindred . | Cells and individuals studied . | Gene and transcript references . | Variant investigated . | Consequences at RNA level . |
|---|---|---|---|---|
| B | T-blasts from P2 | SH2D1A (NM_002351.5) | c.138-22A>G | Skipping of exon 2, frameshift predicted |
| C | T-blasts from P3 | WAS (NM_000377.3) | c.361-20T>G | Retention of intron 3, frameshift predicted |
| D | T-blasts from P4 | DOCK8 (NM_001290223.2) | c.2971-5C>A | Creation of a new acceptor splice site at −4, frameshift predicted (r.2970_2971insACAG, p.V991Gfs*11) |
| Δ13–43 | ||||
| E | T-blasts from P5 | STXBP2 (NM_006949.4) | c.1108-9T>A | Creation of a new acceptor splice site at c.1108-32, frameshift predicted (r.1107_1108ins32, p.D370Rfs*6) |
| F | PBMCs from the mother of P6 | UNC13D (NM_199242.3) | c.2448-49C>A | Creation of a new acceptor splice site at c.2448-47, frameshift predicted (r.2447_2448ins47, p.L817Hfs*18) |
| G | T-blasts from P7 | NFKB1 (NM_003998.4) | c.572-33T>A | Creation of a new acceptor splice site at c.572-32, frameshift predicted (r.571_572ins32, p.D191Efs*17) |
| Skipping of exon 8, frameshift predicted |
| Kindred . | Cells and individuals studied . | Gene and transcript references . | Variant investigated . | Consequences at RNA level . |
|---|---|---|---|---|
| B | T-blasts from P2 | SH2D1A (NM_002351.5) | c.138-22A>G | Skipping of exon 2, frameshift predicted |
| C | T-blasts from P3 | WAS (NM_000377.3) | c.361-20T>G | Retention of intron 3, frameshift predicted |
| D | T-blasts from P4 | DOCK8 (NM_001290223.2) | c.2971-5C>A | Creation of a new acceptor splice site at −4, frameshift predicted (r.2970_2971insACAG, p.V991Gfs*11) |
| Δ13–43 | ||||
| E | T-blasts from P5 | STXBP2 (NM_006949.4) | c.1108-9T>A | Creation of a new acceptor splice site at c.1108-32, frameshift predicted (r.1107_1108ins32, p.D370Rfs*6) |
| F | PBMCs from the mother of P6 | UNC13D (NM_199242.3) | c.2448-49C>A | Creation of a new acceptor splice site at c.2448-47, frameshift predicted (r.2447_2448ins47, p.L817Hfs*18) |
| G | T-blasts from P7 | NFKB1 (NM_003998.4) | c.572-33T>A | Creation of a new acceptor splice site at c.572-32, frameshift predicted (r.571_572ins32, p.D191Efs*17) |
| Skipping of exon 8, frameshift predicted |