Table 3.
The risk mutations of Brugada syndrome and long QT syndrome
| ID | DS | Chr | Start | Gene | Amino acid change | Het | 1000 g/Esp | SIFT | Polyphen | Clinic | ACMG | Evidence | dbSNP |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Brs | chr1 | 3,342,629 | PRDM16 | PNM_199454:exon14:c.G3124A:p.G1042R | ± | – | 0.00(D) | 1.00(D) | – | VUS | PM2_Supporting | – |
| chr10 | 21,097,556 | NEBL | NM_006393:exon26:c.C2644T:p.R882X | ± | < 0.001 | – | – | VUS | VUS | PM2_Supporting | rs151012132 | ||
| chr2 | 179,447,747 | TTN | NM_003319:exon141:c.G38588A:p.R12863Q | ± | – | 0.04(D) | 1.00(D) | VUS | VUS | PM2_Supporting | – | ||
| chr2 | 179,460,249 | TTN | NM_003319:exon123:c.A30637G:p.I10213V | ± | – | 0.36(T) | 0.95(D) | – | VUS | PM2_Supporting | rs56025724 | ||
| chr21 | 18,919,405 | CXADR | NM_001207063:exon2:c.A104G:p.E35G | ± | – | 0.05(T) | 1.00(D) | – | VUS | PM2_Supporting | – | ||
| 3 | Brs | chr1 | 11,907,301 | NPPA | NM_006172:exon2:c.C319T:p.R107X | ± | – | – | – | – | LP | PM2_Supporting， PVS1 | – |
| chr1 | 228,467,100 | OBSCN | NM_001098623:exon27:c.T7351G:p.F2451V | ± | – | 0.27(T) | 0.93(D) | – | VUS | PM2_Supporting | – | ||
| chr1 | 228,547,344 | OBSCN | NM_052843:exon81:c.C18751T:p.R6251W | ± | – | 0.02(D) | 0.74(P) | – | VUS | PM2_Supporting | – | ||
| chr1 | 228,559,174 | OBSCN | NM_001098623:exon94:c.C20695T:p.R6899W | ± | – | 0.00(D) | 0.64(P) | – | VUS | PM2_Supporting | – | ||
| chr2 | 179,640,347 | TTN | NM_003319:exon27:c.G6106A:p.E2036K | ± | – | 0.27(T) | 1.00(D) | – | VUS | PM2_Supporting | – | ||
| 4 | Brs | chr12 | 114,793,662 | TBX5 | NM_080717:exon8:c.C1082T:p.T361I | ± | < 0.001 | 0.13(T) | 0.46(P) | – | VUS | PM2_Supporting | rs267603320 |
| chr2 | 179,432,053 | TTN | NM_003319:exon154:c.C51611T:p.S17204F | ± | – | 0.00(D) | 0.84(P) | – | VUS | PM2_Supporting | – | ||
| 6 | Brs | chr15 | 39,885,760 | THBS1 | NM_003246:exon19:c.C3158T:p.T1053M | ± | < 0.001 | 0.02(D) | 0.71(P) | – | VUS | PM2_Supporting | rs267604168 |
| chr17 | 39,915,014 | JUP | NM_002230:exon9:c.C1606G:p.Q536E | ± | – | 0.03(D) | 0.30(B) | – | VUS | PM2_Supporting | – | ||
| chr3 | 71,015,109 | FOXP1 | NM_001244813:exon14:c.C1521G:p.N507K | ± | – | 0.04(D) | 0.83(P) | – | VUS | PM2_Supporting | – | ||
| 7 | Brs | chr19 | 16,593,346 | CALR3 | NM_145046:exon7:c.G833A:p.R278H | ± | – | 0.03(D) | 0.00(B) | – | VUS | PM2_Supporting | – |
| chr21 | 18,937,961 | CXADR | NM_001338:exon7:c.C1049T:p.A350V | ± | – | 0.102(T) | 0.949(D) | – | VUS | PM2_Supporting | – | ||
| chr4 | 111,539,442 | PITX2 | NM_000325:exon3:c.G814A:p.A272T | ± | – | 0.41(T) | 0.95(D) | – | VUS | PM2_Supporting | – | ||
| chr5 | 251,519 | SDHA | NM_001294332:exon12:c.A1586C:p.Q529P | ± | – | 0.02(D) | 0.99(D) | – | VUS | PM2_Supporting | – | ||
| 9 | Brs | chr5 | 37,333,576 | NUP155 | NM_001278312:exon13:c.C1507T:p.L503F | ± | – | 0.01(D) | 1.00(D) | – | VUS | PM2_Supporting | – |
| chr7 | 128,481,334 | FLNC | NM_001127487:exon12:c.G1924A:p.V642I | ± | < 0.001 | 0.82(T) | 0.67(P) | – | VUS | PM2_Supporting | rs369387744 | ||
| 12 | Brs | chr10 | 112,581,622 | RBM20 | NM_001134363:exon11:c.T3245G:p.L1082R | ± | – | 0.00(D) | 0.08(B) | – | VUS | PM2_Supporting | – |
| chr20 | 33,345,504 | NCOA6 | NM_001242539:exon7:c.G1047C:p.L349F | ± | – | 0.02(D) | 0.89(P) | – | VUS | PM2_Supporting | – | ||
| 14 | LQTs | chr1 | 228,467,732 | OBSCN | NM_001098623:exon28:c.G7607C:p.G2536A | ± | – | 0.01(D) | 1.00(D) | – | VUS | PM2_Supporting | – |
| chr3 | 38,739,348 | SCN10A | NM_001293307:exon26:c.T5069C:p.M1690T | ± | – | 0.00(D) | 0.99(D) | – | VUS | PM2_Supporting | – | ||
| chr3 | 38,770,058 | SCN10A | NM_001293307:exon14:c.C2321T:p.T774M | ± | – | 0.93(T) | 0.02(B) | – | VUS | PM2_Supporting | – | ||
| chr7 | 150,655,499 | KCNH2 | NM_000238:exon4:c.563_564del:p.A188Gfs*143 | ± | – | – | – | – | LP | PM2_Supporting, PVS1 | – | ||
| 15 | Brs | chr14 | 23,853,757 | MYH6 | NM_002471:exon36:c.G5459A:p.R1820Q | ± | < 0.001 | 0.01(D) | 1.00(D) | – | VUS | PM2_Supporting | rs371222772 |
| chr19 | 39,406,284 | SARS2 | NM_017827:exon16:c.C1519T:p.R507W | ± | < 0.001 | 0.01(D) | 0.54(P) | – | VUS | PM2_Supporting | rs143316017 | ||
| chr6 | 152,472,791 | SYNE1 | NM_033071:exon134:c.C24134T:p.A8045V | ± | – | 0.12(T) | 0.98(D) | – | VUS | PM2_Supporting | – | ||
| 16 | Brs | chr14 | 74,970,636 | LTBP2 | NM_000428:exon31:c.4573_4575del:p.1525_1525del | ± | – | – | – | – | VUS | PM2_Supporting, PM4_Supporting | – |
| chr2 | 179,453,729 | TTN | NM_003319:exon132:c.G35528A:p.R11843Q | ± | 0.001 | 0.10(T) | 1.00(D) | – | VUS | PM2_Supporting | rs377203669 | ||
| chr2 | 179,455,524 | TTN | NM_003319:exon132:c.C33733T:p.R11245C | ± | 0.001 | 0.00(D) | 1.00(D) | – | VUS | PM2_Supporting | rs200898955 | ||
| chr7 | 140,624,425 | BRAF | NM_004333:exon1:c.G79A:p.A27T | ± | – | 0.57(T) | 0.48(P) | – | VUS | PM2_Supporting | – | ||
| chr8 | 106,573,686 | ZFPM2 | NM_012082:exon4:c.A397G:p.M133V | ± | – | 0.60(T) | 0.01(B) | – | VUS | PM2_Supporting | rs77117583 | ||
| 17 | Brs | chr1 | 228,547,680 | OBSCN | NM_052843: exon81:c.G19087A:p.G6363S | ± | 1.00(T) | 0.02(B) | – | VUS | PM2_Supporting | – | |
| chr14 | 23,883,054 | MYH7 | NM_000257: exon39:c.G5704C:p.E1902Q | ± | < 0.001 | 0.08(D) | 0.61(P) | – | VUS | PM2_Supporting | rs187073962 | ||
| 20 | Brs | chr6 | 112,506,509 | LAMA4 | NM_001105206:exon9:c.A1007G:p.K336R | ± | – | 0.57(T) | 0.52(P) | – | VUS | PM2_Supporting | – |
DS diseases, LQTs long QT syndrome, Brs Brugada syndrome, Chr chromosome, 1000G/Esp 1000genomes (2015 version) or Esp6500 database, SNP single nucleotide polymorphism, PP polyphen-2, D damaging, B benign, T tolerated, ± heterozygous carrier, P pathogenic, LP likely pathogenic, – no report