Table 3.
NF1 and RNF213 rare variants identified in NF1 patients.
| Patient | Sex | Genotype (cDNA and Protein Change) |
ACMG/ClinVar/LOVD Prediction |
gnomAD Frequency |
Biogear Frequency |
|---|---|---|---|---|---|
| NF-1 | M |
NF1 c.1885G>A (p.Gly629Arg) RNF213 WT |
P/P/P | - | - |
| NF-2 | M |
NF1 c.5242C>T (p.Arg1748 *) RNF213 WT |
P/P/P | - | - |
| NF-3 | M |
NF1 c.2970_2972del (p.Met992del) RNF213 WT |
P/P/P | 8.2 × 10−6 | - |
| NF-4 | M |
NF1 c.545del (p.Tyr182Leufs * 9) RNF213 WT |
LP/-/- | - | - |
| NF-5 | M |
NF1 c.493del (p.Thr165Leufs * 13) RNF213 WT |
LP/-/- | - | - |
| NF-6 | M |
NF1 c.1544_1545del (p.Gly515Alafs * 42) RNF213 WT |
LP/-/- | - | - |
| NF-7 | M |
NF1 c.973_974del (p.Val325Glnfs * 4) RNF213 WT |
LP/-/- | - | - |
| NF-8 | F |
NF1 c.360dup (p.Leu121Serfs * 6) RNF213 WT |
LP/-/- | - | - |
| NF-9 | F |
NF1 c.1144dup (p.Ser382Phefs * 14) RNF213 WT |
LP/-/- | - | - |
| NF-10 | F |
NF1 c.5870del (p.Leu1957Argfs * 2) RNF213 WT |
LP/-/- | - | - |
| NF-11 | F |
NF1 c.6391_6394del (p.Ser2131 *) RNF213 WT |
LP/-/- | - | - |
| NF-12 ‡ | M |
NF1 c.850del (p.Ile284Tyrfs * 11) RNF213 WT |
LP/-/- | - | - |
| NF-13 ‡ | M |
NF1 c.656del (p.Ala219Aspfs * 6) RNF213 WT |
LP/-/- | - | - |
| NF-14 | M |
NF1 c.5401C>T (p.Gln1801 *) RNF213 WT |
P/P/P | - | - |
| NF-15 | F |
NF1 c.229A>T (p.Lys77 *) RNF213 WT |
LP/-/- | - | - |
| NF-16 | M |
NF1 c.3562C>T (p.Gln1188 *) RNF213 WT |
P/P/P | - | - |
| NF-17 | F |
NF1 c.2033dup (p.Ile679Aspfs * 21) RNF213 WT |
P/P/P | - | - |
| NF-18 | M |
NF1 c.3114-2A>G RNF213 WT |
P/LP/P | - | - |
| NF-19 | M |
NF1 c.1381C>T (p.Arg461 *) RNF213 WT |
P/P/P | - | - |
| NF-20 ‡ | F |
NF1 c.354_356delinsG (p.Cys118Trpfs * 8) RNF213 WT |
LP/-/- | - | - |
| NF-21 | M |
NF1 c.3975-2A>G RNF213 WT |
P/P/P | - | - |
| NF-22 | F |
NF1 c.5546G>A (p.Arg1849Gln) RNF213 WT |
P/P/P | - | - |
| NF-23 | F |
NF1 c.4537C>T (p.Arg1513 *) RNF213 WT |
P/C/P | 6 × 10−6 | - |
| NF-24 | F |
NF1 c.574C>T (p.Arg192 *) RNF213 WT |
P/C/P | 1 × 10−5 | - |
| NF-25 | M |
NF1 c.7259-1_7259del (p.Ala2420Valfs * 15) RNF213 WT |
LP/-/- | - | - |
| NF-26 | F |
NF1 c.2511G>A (p.Trp837 *) RNF213 WT |
P/P/P | - | - |
| NF-27 | F |
NF1 c.3826C>T (p.Arg1276 *) RNF213 WT |
P/P/P | - | - |
| NF-28 | M |
NF1 c.2409+1G>T RNF213 WT |
P/P/P | - | - |
| NF-29 | M |
NF1 c.6401_6402del (p.Glu2134Valfs * 13) RNF213 WT |
LP/-/- | - | - |
| NF-30 | M |
NF1 c.1246C>T (p.Arg416 *) RNF213 WT |
P/P/P | 8 × 10−6 | - |
| NF-31 | M |
NF1 c.2540T>C (p.Leu847Pro) RNF213 WT |
P/C/P | - | - |
| NF-32 ‡ | F |
NF1 c.3708+1G>T RNF213 WT |
P/LP/P | - | - |
| NF-33 | F |
NF1 c.4206del (p.Ala1403Glnfs * 4) RNF213 WT |
LP/-/- | - | - |
| NF-34 | M |
NF1 c.983_984del (p.Cys328 *) RNF213 WT |
P/P/P | - | - |
| NF-35 | M |
NF1 c.516delT (p.Asp173Metfs * 5) RNF213 WT |
LP/-/- | - | - |
| NF-36 | M |
NF1 c.2540T>C (p.Leu847Pro) RNF213 WT |
P/C/P | - | - |
| NF-37 | F |
NF1 c.2456del (p.His819Leufs * 2) RNF213 WT |
LP/-/- | - | |
| NF-38 | F |
NF1 c.6792C>A (p.Tyr2264 *) RNF213 WT |
P/P/P | - | - |
| NF-39 | M |
NF1 c.1318C>T (p.Arg440 *) RNF213 WT |
P/P/P | - | 1 × 10−4 |
| NF-40 | M |
NF1 c.7417_7425delinsAAGGT(Trp2473Lysfs * 28) RNF213 WT |
LP/-/- | - | - |
| NF-41 | F |
NF1 c.2252-2A>G RNF213 WT |
P/C/P | - | - |
| NF-42 | F |
NF1 c.204+1G>T RNF213 WT |
P/P/P | 6 × 10−6 | - |
| NF-43 | F |
NF1 c.3445A>G (p.Met1149Val) RNF213 WT |
P/C/P | 6 × 10−6 | - |
| NF-44 | F |
NF1 c.1466A>G (p.Tyr489Cys) RNF213 WT |
P/P/P | 6 × 10−6 | - |
| NF-45 | M |
NF1 c.3827G>A (p.Arg1276Gln) RNF213 c.5162C>T (p.Pro1721Leu) |
P/P/P VUS/-/- |
1 × 10−5 1 × 10−3 |
- 2.7 × 10−3 |
| NF-46 | F |
NF1 c.5543T>G (p.Leu1848 *) RNF213 WT |
P/P/P | - | - |
| NF-47 | M |
NF1 c.654+1G>C RNF213 WT |
LP/-/P | - | - |
M, male; F, female; LOVD, Leiden open Variation Database; Biogear, in-house exome controls dataset; VUS, variant of uncertain significance; P, pathogenic; LP, likely pathogenic. C, conflicting; * stop codon; ‡ Familial case. Reference sequences: NF1: NM_000267.3; RNF213: NM_001256071.3.