GeneBe

TTN-AS1

TTN antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 2:178521183-178779963

Links

ENSG00000237298 ∙ NCBI:100506866 ∙ ∙ HGNC:44124 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TTN-AS1 gene.

  • not provided (10143 variants)
  • Dilated cardiomyopathy 1G;Autosomal recessive limb-girdle muscular dystrophy type 2J (9767 variants)
  • Cardiovascular phenotype (6088 variants)
  • Autosomal recessive limb-girdle muscular dystrophy type 2J;Dilated cardiomyopathy 1G (5992 variants)
  • not specified (5185 variants)
  • Early-onset myopathy with fatal cardiomyopathy (2107 variants)
  • Autosomal recessive limb-girdle muscular dystrophy type 2J (2104 variants)
  • Tibial muscular dystrophy (2093 variants)
  • Myopathy, myofibrillar, 9, with early respiratory failure (2088 variants)
  • Dilated cardiomyopathy 1G (1954 variants)
  • Cardiomyopathy (1711 variants)
  • 6 conditions (1261 variants)
  • Primary dilated cardiomyopathy (498 variants)
  • TTN-related condition (253 variants)
  • Hypertrophic cardiomyopathy (124 variants)
  • Tip-toe gait (68 variants)
  • Hypertrophic cardiomyopathy 9 (52 variants)
  • Dilated cardiomyopathy 1G;Hypertrophic cardiomyopathy 9 (48 variants)
  • Primary familial dilated cardiomyopathy (47 variants)
  • Dilated Cardiomyopathy, Dominant (38 variants)
  • TTN-Related Disorders (38 variants)
  • Limb-Girdle Muscular Dystrophy, Recessive (38 variants)
  • Hypertrophic cardiomyopathy 9;Dilated cardiomyopathy 1G (36 variants)
  • Inborn genetic diseases (33 variants)
  • See cases (20 variants)
  • Dilated cardiomyopathy 1S (19 variants)
  • Primary familial hypertrophic cardiomyopathy (19 variants)
  • Dilated cardiomyopathy 1A (17 variants)
  • Arrhythmogenic right ventricular cardiomyopathy (14 variants)
  • Left ventricular noncompaction cardiomyopathy (13 variants)
  • Brugada syndrome (13 variants)
  • Long QT syndrome (12 variants)
  • TTN-related myopathy (12 variants)
  • Ventricular tachycardia (11 variants)
  • Myopathy (9 variants)
  • - (8 variants)
  • Atrial fibrillation (8 variants)
  • TTN-related disease (8 variants)
  • SUDDEN INFANT DEATH SYNDROME (5 variants)
  • Heart failure (4 variants)
  • Left ventricular hypertrophy (4 variants)
  • Left ventricular noncompaction 2 (4 variants)
  • Abnormality of neuronal migration (3 variants)
  • Ventricular fibrillation (3 variants)
  • Supraventricular tachycardia (3 variants)
  • Familial restrictive cardiomyopathy (3 variants)
  • Ventricular tachycardia;Cardiomyopathy (3 variants)
  • Arrhythmogenic right ventricular dysplasia 1 (3 variants)
  • Arrhythmogenic right ventricular dysplasia 9 (3 variants)
  • Ventricular fibrillation;Cardiomyopathy (3 variants)
  • Multiminicore myopathy (3 variants)
  • Premature ventricular contraction (3 variants)
  • Primary dilated cardiomyopathy;Cardiomyopathy (3 variants)
  • Centronuclear myopathy (3 variants)
  • Sudden cardiac arrest (3 variants)
  • Desmin-related myofibrillar myopathy (3 variants)
  • Early-onset myopathy with fatal cardiomyopathy;Congenital titinopathy (2 variants)
  • Long QT syndrome;Cardiomyopathy (2 variants)
  • Third degree atrioventricular block (2 variants)
  • Wolff-Parkinson-White pattern (2 variants)
  • Hypertrophic cardiomyopathy 9;Tibial muscular dystrophy;Myopathy, myofibrillar, 9, with early respiratory failure;Dilated cardiomyopathy 1G (2 variants)
  • Early-onset myopathy with fatal cardiomyopathy;Autosomal recessive limb-girdle muscular dystrophy type 2J (2 variants)
  • Hypertrophic cardiomyopathy;Cardiomyopathy (2 variants)
  • Amyloidogenic transthyretin amyloidosis (2 variants)
  • Heart failure;Long QT syndrome;Cardiomyopathy (2 variants)
  • Congenital titinopathy (2 variants)
  • Limb-girdle muscular dystrophy (2 variants)
  • Supraventricular tachycardia;Hypertrophic cardiomyopathy (2 variants)
  • TTN-Related disorder (2 variants)
  • Restrictive cardiomyopathy (2 variants)
  • Congestive heart failure (2 variants)
  • Rare genetic intellectual disability (2 variants)
  • Titinopathy (2 variants)
  • Atrial fibrillation;Cardiomyopathy (1 variants)
  • Ventricular tachycardia;Hypertrophic cardiomyopathy;Familial dilated cardiomyopathy and peripheral neuropathy (1 variants)
  • 7 conditions (1 variants)
  • Decreased patellar reflex;Limb-girdle muscular dystrophy;Muscular dystrophy;Proximal lower limb amyotrophy;Waddling gait (1 variants)
  • Hypertrophic cardiomyopathy 9;Autosomal recessive limb-girdle muscular dystrophy type 2J;Tibial muscular dystrophy;Dilated cardiomyopathy 1G;Myopathy, myofibrillar, 9, with early respiratory failure (1 variants)
  • Ventricular tachycardia;Atrial fibrillation (1 variants)
  • Interstitial cardiac fibrosis (1 variants)
  • Autosomal recessive limb-girdle muscular dystrophy type 2J;Tibial muscular dystrophy;Myopathy, myofibrillar, 9, with early respiratory failure;Primary dilated cardiomyopathy (1 variants)
  • Hypertrophic cardiomyopathy;Long QT syndrome;Cardiomyopathy (1 variants)
  • Dilated cardiomyopathy 1G;Hypertrophic cardiomyopathy 9;Autosomal recessive limb-girdle muscular dystrophy type 2J (1 variants)
  • Primary dilated cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Autosomal recessive limb-girdle muscular dystrophy type 2J;Tibial muscular dystrophy (1 variants)
  • Myopathy, myofibrillar, 9, with early respiratory failure;Primary dilated cardiomyopathy;Autosomal recessive limb-girdle muscular dystrophy type 2J;Tibial muscular dystrophy (1 variants)
  • Hypertrophic cardiomyopathy 1 (1 variants)
  • Hypertrophic cardiomyopathy;Congestive heart failure;Cardiomyopathy (1 variants)
  • Primary dilated cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy (1 variants)
  • Lower limb muscle weakness (1 variants)
  • Cerebral palsy (1 variants)
  • Autosomal recessive titinopathy (1 variants)
  • CAP-congenital myopathy with arthrogryposis multiplex congenita without heart involvement (1 variants)
  • Tibial muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2J (1 variants)
  • Ventricular tachycardia;Hypertrophic cardiomyopathy;Cardiomyopathy (1 variants)
  • 8 conditions (1 variants)
  • Primary dilated cardiomyopathy;Heart failure (1 variants)
  • Abnormality of the musculature (1 variants)
  • Hypertrophic cardiomyopathy 9;Autosomal recessive limb-girdle muscular dystrophy type 2J;Dilated cardiomyopathy 1G;Early-onset myopathy with fatal cardiomyopathy (1 variants)
  • Systolic heart failure (1 variants)
  • Primary dilated cardiomyopathy;Cardiomyopathy;Noncompaction cardiomyopathy;Low-output congestive heart failure (1 variants)
  • Cardiomyopathy;Supraventricular tachycardia (1 variants)
  • Myopathy, myofibrillar, 9, with early respiratory failure;Autosomal recessive limb-girdle muscular dystrophy type 2J;Early-onset myopathy with fatal cardiomyopathy;Hypertrophic cardiomyopathy 9;Dilated cardiomyopathy 1G (1 variants)
  • Cardiomyopathy;Primary dilated cardiomyopathy (1 variants)
  • Limb-girdle muscle weakness;Limb-girdle muscle atrophy (1 variants)
  • Minicore myopathy (1 variants)
  • Autosomal recessive limb-girdle muscular dystrophy type 2J;Tibial muscular dystrophy;Myopathy, myofibrillar, 9, with early respiratory failure (1 variants)
  • Ventricular tachycardia;Congestive heart failure;Atrial fibrillation (1 variants)
  • Orofacial cleft 1 (1 variants)
  • Hypertrophic cardiomyopathy 9;Myopathy, myofibrillar, 9, with early respiratory failure;Dilated cardiomyopathy 1G;Early-onset myopathy with fatal cardiomyopathy (1 variants)
  • Syncope;Hypertrophic cardiomyopathy (1 variants)
  • Atrial fibrillation;Primary dilated cardiomyopathy (1 variants)
  • Rimmed vacuoles;Myopathy;Lower limb muscle weakness (1 variants)
  • Hypertrophic cardiomyopathy 9;Autosomal recessive limb-girdle muscular dystrophy type 2J;Early-onset myopathy with fatal cardiomyopathy;Dilated cardiomyopathy 1G (1 variants)
  • Autosomal recessive limb-girdle muscular dystrophy type 2J;Early-onset myopathy with fatal cardiomyopathy (1 variants)
  • Noncompaction cardiomyopathy (1 variants)
  • Hypertrophic cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy (1 variants)
  • Left ventricular noncompaction (1 variants)
  • Reduced left ventricular ejection fraction;Noncompaction cardiomyopathy (1 variants)
  • Atrial fibrillation;Primary dilated cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy (1 variants)
  • Myopathy, myofibrillar, 9, with early respiratory failure;Primary dilated cardiomyopathy;Tibial muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2J (1 variants)
  • Congenital myopathy (1 variants)
  • Brugada syndrome;Primary dilated cardiomyopathy (1 variants)
  • X-linked myopathy with postural muscle atrophy (1 variants)
  • Fatty replacement of skeletal muscle;Late-onset muscular dystrophy;Gait disturbance;Muscular dystrophy;EMG abnormality (1 variants)
  • Ventricular tachycardia;Supraventricular tachycardia;Brugada syndrome (1 variants)
  • Sudden cardiac death;Cardiac arrest (1 variants)
  • Heart failure;Primary dilated cardiomyopathy (1 variants)
  • Schizophrenia (1 variants)
  • Neuromuscular disease (1 variants)
  • Ventricular fibrillation, paroxysmal familial, type 1 (1 variants)
  • Limb-girdle muscular dystrophy;Muscular dystrophy;Decreased patellar reflex;Waddling gait;Proximal lower limb amyotrophy (1 variants)
  • Dilated cardiomyopathy 1G;Hypertrophic cardiomyopathy 9;Myopathy, myofibrillar, 9, with early respiratory failure (1 variants)
  • Neurodevelopmental delay (1 variants)
  • Muscular dystrophy (1 variants)
  • Brugada syndrome;Cardiomyopathy (1 variants)
  • Myopathy, centronuclear, 2;Autosomal recessive limb-girdle muscular dystrophy type 2J;Tibial muscular dystrophy;Myopathy, myofibrillar, 9, with early respiratory failure;Primary dilated cardiomyopathy (1 variants)
  • Right ventricular cardiomyopathy (1 variants)
  • Primary dilated cardiomyopathy;Autosomal recessive limb-girdle muscular dystrophy type 2J;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy (1 variants)
  • Motor delay (1 variants)
  • Restrictive ventilatory defect;Bilateral talipes equinovarus;Areflexia of lower limbs;Thoracic kyphoscoliosis;Spinal rigidity (1 variants)
  • Dilated cardiomyopathy 1G;Hypertrophic cardiomyopathy 9;Autosomal recessive limb-girdle muscular dystrophy type 2J;Tibial muscular dystrophy;Myopathy, myofibrillar, 9, with early respiratory failure (1 variants)
  • Thoracic kyphoscoliosis;Spinal rigidity;Bilateral talipes equinovarus;Restrictive ventilatory defect;Areflexia of lower limbs (1 variants)
  • Conduction disorder of the heart (1 variants)
  • Mitral valve prolapse (1 variants)
  • Diastolic dysfunction (1 variants)
  • Primary dilated cardiomyopathy;Myocarditis (1 variants)
  • Family history of cardiomyopathy (1 variants)
  • Atrial fibrillation;Hypertrophic cardiomyopathy;Brugada syndrome;Congestive heart failure (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTN-AS1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
0
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
3
clinvar
36
clinvar
86
clinvar
95
clinvar
4
clinvar
 224
splice region
0
non coding
202
clinvar
2515
clinvar
10127
clinvar
12455
clinvar
721
clinvar
 26020
Total 205 2551 10213 12550 725

Highest pathogenic variant AF is 0.0000263

Variants in TTN-AS1

This is a list of pathogenic ClinVar variants found in the TTN-AS1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
2-178525940-A-G Benign (May 19, 2021)1262402
2-178525976-A-C Likely benign (Aug 24, 2021)1342798
2-178525997-T-C Dilated cardiomyopathy 1G • Tibial muscular dystrophy • Autosomal recessive limb-girdle muscular dystrophy type 2J • Myopathy, myofibrillar, 9, with early respiratory failure • Early-onset myopathy with fatal cardiomyopathy Conflicting classifications of pathogenicity (Jan 13, 2018)332662
2-178526044-A-G Myopathy, myofibrillar, 9, with early respiratory failure • Autosomal recessive limb-girdle muscular dystrophy type 2J • Dilated cardiomyopathy 1G • Tibial muscular dystrophy • Early-onset myopathy with fatal cardiomyopathy Uncertain significance (Jan 13, 2018)332663
2-178526093-C-G Dilated cardiomyopathy 1G • Early-onset myopathy with fatal cardiomyopathy • Myopathy, myofibrillar, 9, with early respiratory failure • Autosomal recessive limb-girdle muscular dystrophy type 2J • Tibial muscular dystrophy Uncertain significance (Jan 13, 2018)332664
2-178526099-G-T Tibial muscular dystrophy • Autosomal recessive limb-girdle muscular dystrophy type 2J • Early-onset myopathy with fatal cardiomyopathy • Myopathy, myofibrillar, 9, with early respiratory failure • Dilated cardiomyopathy 1G • 6 conditions Uncertain significance (Oct 19, 2021)332665
2-178526114-T-G Myopathy, myofibrillar, 9, with early respiratory failure • Early-onset myopathy with fatal cardiomyopathy • Dilated cardiomyopathy 1G • Autosomal recessive limb-girdle muscular dystrophy type 2J • Tibial muscular dystrophy Uncertain significance (Jan 12, 2018)894547
2-178526348-C-A Tibial muscular dystrophy • Early-onset myopathy with fatal cardiomyopathy • Autosomal recessive limb-girdle muscular dystrophy type 2J • Dilated cardiomyopathy 1G • Myopathy, myofibrillar, 9, with early respiratory failure Benign/Likely benign (May 23, 2021)332666
2-178526376-A-C Dilated cardiomyopathy 1G • Tibial muscular dystrophy • Early-onset myopathy with fatal cardiomyopathy • Autosomal recessive limb-girdle muscular dystrophy type 2J • Myopathy, myofibrillar, 9, with early respiratory failure Uncertain significance (Jan 13, 2018)332667
2-178526379-G-A Tibial muscular dystrophy • Dilated cardiomyopathy 1G • Early-onset myopathy with fatal cardiomyopathy • Myopathy, myofibrillar, 9, with early respiratory failure • Autosomal recessive limb-girdle muscular dystrophy type 2J Uncertain significance (Mar 16, 2018)893121
2-178526389-C-T Myopathy, myofibrillar, 9, with early respiratory failure • Early-onset myopathy with fatal cardiomyopathy • Dilated cardiomyopathy 1G • Tibial muscular dystrophy • Autosomal recessive limb-girdle muscular dystrophy type 2J Uncertain significance (Jan 12, 2018)332668
2-178526425-A-T Dilated cardiomyopathy 1G • Myopathy, myofibrillar, 9, with early respiratory failure • Early-onset myopathy with fatal cardiomyopathy • Tibial muscular dystrophy • Autosomal recessive limb-girdle muscular dystrophy type 2J Conflicting classifications of pathogenicity (May 25, 2021)332669
2-178526508-C-T Tibial muscular dystrophy • Myopathy, myofibrillar, 9, with early respiratory failure • Early-onset myopathy with fatal cardiomyopathy • Dilated cardiomyopathy 1G • Autosomal recessive limb-girdle muscular dystrophy type 2J Uncertain significance (Jan 12, 2018)894175
2-178526732-T-C Myopathy, myofibrillar, 9, with early respiratory failure • Early-onset myopathy with fatal cardiomyopathy • Tibial muscular dystrophy • Dilated cardiomyopathy 1G • Autosomal recessive limb-girdle muscular dystrophy type 2J Conflicting classifications of pathogenicity (Jan 13, 2018)332670
2-178526738-C-T Autosomal recessive limb-girdle muscular dystrophy type 2J • Early-onset myopathy with fatal cardiomyopathy • Tibial muscular dystrophy • Dilated cardiomyopathy 1G • Myopathy, myofibrillar, 9, with early respiratory failure Uncertain significance (Jan 13, 2018)332671
2-178526815-G-C Early-onset myopathy with fatal cardiomyopathy • Autosomal recessive limb-girdle muscular dystrophy type 2J • Tibial muscular dystrophy • Myopathy, myofibrillar, 9, with early respiratory failure • Dilated cardiomyopathy 1G Uncertain significance (Jan 13, 2018)332672
2-178526829-T-C Early-onset myopathy with fatal cardiomyopathy • Autosomal recessive limb-girdle muscular dystrophy type 2J • Tibial muscular dystrophy • Dilated cardiomyopathy 1G • Myopathy, myofibrillar, 9, with early respiratory failure Uncertain significance (Jan 12, 2018)893373
2-178526871-A-C Dilated cardiomyopathy 1G • Myopathy, myofibrillar, 9, with early respiratory failure • Tibial muscular dystrophy • Autosomal recessive limb-girdle muscular dystrophy type 2J • Early-onset myopathy with fatal cardiomyopathy • 6 conditions Uncertain significance (Dec 06, 2021)893374
2-178526882-C-G Autosomal recessive limb-girdle muscular dystrophy type 2J • Tibial muscular dystrophy • Dilated cardiomyopathy 1G • Myopathy, myofibrillar, 9, with early respiratory failure • Early-onset myopathy with fatal cardiomyopathy Benign/Likely benign (Jan 13, 2018)332673
2-178526912-CT-C Likely benign (Jun 26, 2018)1204371
2-178526912-C-CT Limb-girdle muscular dystrophy, recessive • Hypertrophic cardiomyopathy • Early-onset myopathy with fatal cardiomyopathy • Myopathy, myofibrillar, 9, with early respiratory failure • Dilated Cardiomyopathy, Dominant • Tibial muscular dystrophy • Autosomal recessive limb-girdle muscular dystrophy type 2J Benign/Likely benign (Sep 10, 2021)332674
2-178526953-C-T Dilated cardiomyopathy 1G • Early-onset myopathy with fatal cardiomyopathy • Tibial muscular dystrophy • Myopathy, myofibrillar, 9, with early respiratory failure • Autosomal recessive limb-girdle muscular dystrophy type 2J Conflicting classifications of pathogenicity (Jan 12, 2018)332675
2-178526969-G-A Likely benign (Jul 14, 2018)1214912
2-178526987-G-A Autosomal recessive limb-girdle muscular dystrophy type 2J • Tibial muscular dystrophy • Myopathy, myofibrillar, 9, with early respiratory failure • Early-onset myopathy with fatal cardiomyopathy • Dilated cardiomyopathy 1G Conflicting classifications of pathogenicity (Jan 13, 2018)332676
2-178527006-G-T Early-onset myopathy with fatal cardiomyopathy • Dilated cardiomyopathy 1G • Tibial muscular dystrophy • Myopathy, myofibrillar, 9, with early respiratory failure • not specified • Autosomal recessive limb-girdle muscular dystrophy type 2J Conflicting classifications of pathogenicity (Mar 17, 2020)332677

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP