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 (80 variants)
• Dilated cardiomyopathy 1G;Autosomal recessive limb-girdle muscular dystrophy type 2J (22 variants)
• Dilated cardiomyopathy 1G (19 variants)
• Cardiovascular phenotype (15 variants)
• Autosomal recessive limb-girdle muscular dystrophy type 2J;Dilated cardiomyopathy 1G (14 variants)
• Primary dilated cardiomyopathy (9 variants)
• Autosomal recessive limb-girdle muscular dystrophy type 2J (9 variants)
• Cardiomyopathy (4 variants)
• Primary familial dilated cardiomyopathy (4 variants)
• 6 conditions (4 variants)
• Dilated cardiomyopathy 1A (4 variants)
• Tibial muscular dystrophy (3 variants)
• Autosomal recessive titinopathy (2 variants)
• TTN-related disorder (2 variants)
• Inborn genetic diseases (2 variants)
• Myopathy, myofibrillar, 9, with early respiratory failure (2 variants)
• Dilated cardiomyopathy 1S (1 variants)
• Hypertrophic cardiomyopathy (1 variants)
• Multiminicore myopathy (1 variants)
• Myopathy (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	5	4		12
splice region	1	12	18	21		52
non coding	147	2473	5865	6180	112	14777
Total	147	2476	5870	6184	112

Highest pathogenic variant AF is 0.0000132

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)
2-178525976-A-C			Likely benign (Aug 24, 2021)
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)
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)
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)
2-178526099-G-T		Autosomal recessive limb-girdle muscular dystrophy type 2J • Tibial muscular dystrophy • Early-onset myopathy with fatal cardiomyopathy • Myopathy, myofibrillar, 9, with early respiratory failure • Dilated cardiomyopathy 1G • 6 conditions	Uncertain significance (Oct 19, 2021)
2-178526114-T-G		Autosomal recessive limb-girdle muscular dystrophy type 2J • Tibial muscular dystrophy • Early-onset myopathy with fatal cardiomyopathy • Dilated cardiomyopathy 1G • Myopathy, myofibrillar, 9, with early respiratory failure	Uncertain significance (Jan 12, 2018)
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)
2-178526376-A-C		Dilated cardiomyopathy 1G • Tibial muscular dystrophy • Early-onset myopathy with fatal cardiomyopathy • Myopathy, myofibrillar, 9, with early respiratory failure • Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Jan 13, 2018)
2-178526379-G-A		Myopathy, myofibrillar, 9, with early respiratory failure • Tibial muscular dystrophy • Dilated cardiomyopathy 1G • Early-onset myopathy with fatal cardiomyopathy • Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Mar 16, 2018)
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)
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)
2-178526508-C-T		Tibial muscular dystrophy • Myopathy, myofibrillar, 9, with early respiratory failure • Dilated cardiomyopathy 1G • Autosomal recessive limb-girdle muscular dystrophy type 2J • Early-onset myopathy with fatal cardiomyopathy	Uncertain significance (Jan 12, 2018)
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)
2-178526738-C-T		Autosomal recessive limb-girdle muscular dystrophy type 2J • Early-onset myopathy with fatal cardiomyopathy • Tibial muscular dystrophy • Myopathy, myofibrillar, 9, with early respiratory failure • Dilated cardiomyopathy 1G	Uncertain significance (Jan 13, 2018)
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)
2-178526829-T-C		Early-onset myopathy with fatal cardiomyopathy • Dilated cardiomyopathy 1G • Autosomal recessive limb-girdle muscular dystrophy type 2J • Myopathy, myofibrillar, 9, with early respiratory failure • Tibial muscular dystrophy	Uncertain significance (Jan 12, 2018)
2-178526871-A-C		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 • 6 conditions	Uncertain significance (Dec 06, 2021)
2-178526882-C-G		Tibial muscular dystrophy • Autosomal recessive limb-girdle muscular dystrophy type 2J • Dilated cardiomyopathy 1G • Myopathy, myofibrillar, 9, with early respiratory failure • Early-onset myopathy with fatal cardiomyopathy	Benign/Likely benign (Jan 13, 2018)
2-178526912-CT-C			Likely benign (Jun 26, 2018)
2-178526912-C-CT		Limb-girdle muscular dystrophy, recessive • Hypertrophic cardiomyopathy • Myopathy, myofibrillar, 9, with early respiratory failure • Early-onset myopathy with fatal cardiomyopathy • Dilated Cardiomyopathy, Dominant • Tibial muscular dystrophy • Autosomal recessive limb-girdle muscular dystrophy type 2J	Benign/Likely benign (Sep 10, 2021)
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)
2-178526969-G-A			Likely benign (Jul 14, 2018)
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)
2-178527006-G-T		Early-onset myopathy with fatal cardiomyopathy • Dilated cardiomyopathy 1G • Tibial muscular dystrophy • Myopathy, myofibrillar, 9, with early respiratory failure • Autosomal recessive limb-girdle muscular dystrophy type 2J • not specified	Conflicting classifications of pathogenicity (Mar 17, 2020)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP