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Table 1 Selection of MYOM1 and MYOM2 variants: Selection of published variants identified in patients with hypertrophic (HCM), dilated (DCM) or restrictive (RCM) cardiomyopathy, embryonic lethality (EL), sudden unexplained death in young (SUDY), sudden cardiac death (SCD), arthrogryposis (Arthr) and Tetralogy of Fallot (TOF)

From: The role of the M-band myomesin proteins in muscle integrity and cardiac disease

Gene

GRCh37/hg19

HGVSc

HGVSp

Zygosity

Mutation taster

Varsome

HGMD disease mutation

CADD

GnomAD v2.1.1

MAF

Associated disease

References

MYOM1

18-3215068-C-G

c.154G > C

p.A52P

Htz

Polym

VUS

CM188378

22.2

  

SUDY

[76]

MYOM1

18-3155074-T-G

c.1514A > C

p.E505A

Htz

DC

VUS

CM1715431

24.7

3/277564

0.00001081

HCM

[70]

MYOM1

18-3151880-C-T

c.1655G > A

p.G552D

Htz

DC

VUS

CM1620054

27.4

  

HCM

[70]

MYOM1

18-3135667-C-T

c.2087G > A

p.R696H

Htz

DC

VUS

CM1620045

28.8

57/280526

0.0002032

HCM

[70]

MYOM1

18-3135622-C-T

c.2132G > A

p.R711H

Htz

DC

VUS

CM168783

32.0

22/280536

0.00007842

HCM

[77]

MYOM1

18-3135623-G-A

c.2131C > T

p.R711C

Htz

DC

VUS

CM168778

29.4

9/249116

0.00003613

HCM

[77]

MYOM1

18-3129517-C-A

c.2507G > T

p.G836V

Htz

DC

LB

CM173090

33.0

9/242760

0.00003707

HCM

[71]

MYOM1

18-3085111-C-T

c.4271G > A

p.G1424E

Htz

DC

VUS

CM1611742

32.0

10/270868

0.00003692

RCM

[78]

MYOM1

18-3083803-C-T

c.4468G > A

p.V1490I

Htz

DC

VUS,B

CM110808

23.2

6/188284

0.00003187

HCM

[65]

MYOM1

18-3067331-C-T

c.4987G > A

p.V1663M

Hmz

DC

VUS, LP

CM155525

28.7

2/249186

0.000004013

EL

[62]

MYOM2

8-2007334-C-G

c.621C > G

p.S207R

Hmz

DC

LB

 

22.8

16/282774

0.00005658

Arthr

[63]

MYOM2

8-2020440-T-C

c.809T > C

p.M270T

Htz

Polym

LB

 

10.9

  

HCM

[48]

MYOM2

8-2026950-C-G

c.1398C > G

p.S466R

Htz

DC

VUS

 

23.4

157/282714

0.0005553

HCM

[48]

MYOM2

8-2041912-G-A

c.2119G > A

p.A707T

Htz

DC

LB

CM147958

22.4

25/282664

0.00008844

TOF

[46]

MYOM2

8-2046750-A-G

c.2377A > G

p.I793V

Hmz

Polym

VUS

 

1.04

  

HCM

[48]

MYOM2

8-2054058-G-A

c.2761G > A

p.D921N

Htz

DC

VUS

CM1515391

24.6

26/282488

0.00009204

SCD

[72]

MYOM2

8-2054094-C-T

c.2797C > T

p.Q933ter

Hmz

DC

VUS

 

47.0

26/251264

0.00010347

EL

[63]

MYOM2

8-2063806-C-T

c.3235C > T

p.R1079ter

Htz

DC

VUS

 

40.0

7/251336

0.00002785

HCM

[48]

MYOM2

8-2088749-A-G

c.3904A > G

p.T1302A

Htz

DC

LB

CM147960

16.3

93/282810

0.0003288

TOF, DCM

(46)

  1. Variants homozygous in GnomAD large populations were not introduced
  2. Htz heterozygous, Hmz homozygous, DC disease causing, VUS variant of unknown significance, LB,B likely benign, benign, MAF minor allele frequency from total exome and genome from GnomAD v2.1.1
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Journal of Biomedical Science

ISSN: 1423-0127