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. 2022 Oct 27;17:394. doi: 10.1186/s13023-022-02542-z

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