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Table 3 The potential pathogenic variants of the proband

From: Rare and potential pathogenic mutations of LMNA and LAMA4 associated with familial arrhythmogenic right ventricular cardiomyopathy/dysplasia with right ventricular heart failure, cerebral thromboembolism and hereditary electrocardiogram abnormality

Chr

Start

Func

Gene

Amino acid change

1000 g all

SIFT

Polyphen2

MetaSVM

CADD

Clinvar

ACMG

chr1

156104681

Exonic

LMNA

NM_001282626:exon4:c.C725T:p.A242V

D(0.01)

D(0.979)

D(0.9)

33

LP

VUS

chr1

229568310

Exonic

ACTA1

NM_001100:exon3:c.G447T:p.R149S

D(0)

B(0.044)

D(0.656)

22.6

 

chr1

237666765

Exonic

RYR2

NM_001035:exon22:c.C2573T:p.T858M

D(0.01)

B(0.247)

D(0.723)

25.8

US

LB

chr12

111356969

Exonic

MYL2

NM_000432:exon2:c.G32A:p.G11E

T(0.25)

B(0)

T(− 0.897)

9.755

chr14

23902749

Exonic

MYH7

NM_000257:exon3:c.T193C:p.Y65H

T(0.08)

B(0.001)

T(− 0.882)

0.001

chr15

63336266

Exonic

TPM1

NM_000366:exon2:c.G155C:p.G52A

T(0.73)

B(0.016)

D(0.22)

3.764

chr2

179414991

Exonic

TTN

NM_003319:exon165:c.T64379C:p.I21460T

0.00019968

D(0)

B(0)

T(− 1.033)

5.772

chr2

179426798

Exonic

TTN

NM_003319:exon154:c.T56866A:p.S18956T

D(0)

B(0)

T(− 1.028)

1.396

chr2

179435192

Exonic

TTN

NM_003319:exon154:c.A48472G:p.T16158A

D(0)

B(0.023)

T(− 0.872)

0.386

chr2

179435225

Exonic

TTN

NM_003319:exon154:c.G48439A:p.V16147I

D(0)

B(0.002)

T(− 0.97)

15.47

chr2

179435281

Exonic

TTN

NM_003319:exon154:c.G48383A:p.R16128K

D(0)

B(0.001)

T(− 1.017)

14.91

chr2

179435636

Exonic

TTN

NM_003319:exon154:c.C48028A:p.H16010N

D(0)

B(0)

T(− 0.929)

15.99

chr2

179435664

Exonic

TTN

NM_003319:exon154:c.T48000G:p.H16000Q

D(0)

B(0)

T(− 1.038)

2.385

chr2

179435678

Exonic

TTN

NM_003319:exon154:c.A47986G:p.I15996V

D(0)

B(0.002)

T(− 1.005)

9.277

chr2

179436004

Exonic

TTN

NM_003319:exon154:c.G47660A:p.S15887N

D(0)

B(0.019)

T(− 0.722)

17.16

chr2

179436043

Exonic

TTN

NM_003319:exon154:c.G47621A:p.R15874K

D(0)

B(0)

T(− 1.031)

13.67

chr2

179436062

Exonic

TTN

NM_003319:exon154:c.A47602G:p.I15868V

D(0)

B(0)

T(− 0.989)

8.062

chr2

179439808

Exonic

TTN

NM_003319:exon154:c.C43856A:p.T14619N

D(0)

B(0.001)

T(− 1.0)

2.982

chr2

179440715

Exonic

TTN

NM_003319:exon154:c.A42949G:p.N14317D

D(0)

B(0)

T(− 1.022)

10.88

chr2

179442904

Exonic

TTN

NM_003319:exon150:c.C41143A:p.L13715I

D(0)

B(0.001)

T(− 1.03)

13.5

chr2

179454374

Exonic

TTN

NM_003319:exon132:c.A34883C:p.D11628A

D(0)

D(0.999)

T(− 0.591)

16.01

chr2

179454375

Exonic

TTN

NM_003319:exon132:c.G34882A:p.D11628N

D(0)

D(0.999)

T(− 0.573)

21.3

chr2

179469995

Exonic

TTN

NM_003319:exon108:c.G26714C:p.S8905T

D(0)

B(0)

T(− 0.884)

11.48

chr2

179469996

Exonic

TTN

NM_003319:exon108:c.A26713G:p.S8905G

D(0)

B(0.014)

T(− 1.001)

7.502

chr2

179594978

Exonic

TTN

NM_133378:exon59:c.A14417G:p.K4806R

D(0)

P(0.489)

T(− 0.5)

14.71

chr2

179596532

Exonic

TTN

NM_133378:exon55:c.T13338G:p.H4446Q

D(0)

B(0)

T(− 1.023)

0.001

chr2

179598095

Exonic

TTN

NM_133378:exon51:c.A12193T:p.I4065L

D(0)

B(0.001)

T(− 0.979)

12.51

chr2

179603055

Exonic

TTN

NM_003319:exon46:c.C13036G:p.L4346V

D(0)

P(0.652)

T(− 0.883)

10.8

chr2

179603066

Exonic

TTN

NM_003319:exon46:c.A13025G:p.K4342R

D(0)

B(0.002)

T(− 0.88)

14.9

chr2

179623776

Exonic

TTN

NM_003319:exon43:c.C10100T:p.T3367I

D(0)

B(0.004)

T(− 0.824)

12.56

chr2

179643647

Exonic

TTN

NM_003319:exon23:c.G4024A:p.G1342R

D(0)

B(0.316)

T(− 0.91)

9.399

chr4

120072176

Exonic

MYOZ2

NM_016599:exon3:c.C226G:p.Q76E

T(1)

B(0.001)

T(− 1.009)

0.31

chr4

120072183

Exonic

MYOZ2

NM_016599:exon3:c.G233A:p.R78K

T(1)

B(0.001)

T(− 0.98)

10.29

chr4

186429649

Exonic

PDLIM3

NM_014476:exon5:c.G466C:p.V156L

T(0.65)

B(0)

T(− 0.937)

6.766

chr4

186429688

Exonic

PDLIM3

NM_014476:exon5:c.T427G:p.C143G

T(0.38)

B(0)

T(− 1.084)

1.276

chr6

112512883

Exonic

LAMA4

NM_001105206:exon6:c.G673C:p.A225P

D(0.01)

D(1)

D(0.052)

27.4

LB

B

chr8

126056890

Exonic

KIAA0196

NM_014846:exon21:c.A2555G:p.H852R

T(0.43)

B(0.006)

T(0.94)

9.419

VUS

  1. Bold indicates the variants positively carried by the family members, varified by the Sanger sequencing
  2. Chr: chromosome. Fre: frequency. Het: heterozygosis. Hom: homozygosis. GnomAD: frequency of the existing variant in gnomAD exomes combined population. Local Fre: frequency information about this SNP in sequencing samples of over 200 normal people collected locally. Local frequency: 0–0.01 = A; 0.01–0.05 is B (including 0.01 and 0.05); 0.05–1 is C. P: possibly damaging; T: tolerated; U: unknown. 1000G: 1000 Genomes Project databases (2014version). B: benign. D: deleterious. US: uncertain significance. LB: likely benign. LP: likely pathogenic. –: no report