DSG2-AS1

DSG2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 18:31542146-31556948

Links

ENSG00000264859 ∙ NCBI:100652770 ∙ ∙ HGNC:51311 ∙ ∙ ∙ 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 DSG2-AS1 gene.

• Arrhythmogenic right ventricular dysplasia 10 (366 variants)
• Cardiomyopathy (247 variants)
• Cardiovascular phenotype (173 variants)
• not provided (112 variants)
• not specified (74 variants)
• Arrhythmogenic right ventricular cardiomyopathy (33 variants)
• Arrhythmogenic right ventricular dysplasia 10;Dilated cardiomyopathy 1BB (32 variants)
• Dilated Cardiomyopathy, Dominant (19 variants)
• Dilated cardiomyopathy 1BB;Arrhythmogenic right ventricular dysplasia 10 (13 variants)
• Inborn genetic diseases (4 variants)
• Primary dilated cardiomyopathy (3 variants)
• DSG2-related condition (3 variants)
• Primary familial hypertrophic cardiomyopathy (3 variants)
• Cardiomyopathy;Restrictive cardiomyopathy (2 variants)
• Long QT syndrome (2 variants)
• Dilated cardiomyopathy 1BB (2 variants)
• Cardiac arrhythmia (1 variants)
• Arrhythmogenic right ventricular cardiomyopathy;Cardiomyopathy (1 variants)
• Cardiac arrest (1 variants)
• Primary familial dilated cardiomyopathy (1 variants)
• Sudden cardiac death (1 variants)
• Ventricular fibrillation (1 variants)
• Conduction disorder of the heart (1 variants)
• Dilated cardiomyopathy 1A (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DSG2-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)	1	3	2	1		7
splice region						0
non coding	2	19	324	190	20	555
Total	3	22	326	191	20

Variants in DSG2-AS1

This is a list of pathogenic ClinVar variants found in the DSG2-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
18-31542304-T-C			Benign (Jul 11, 2018)
18-31542385-A-G			Benign (Jul 11, 2018)
18-31542510-G-T		Arrhythmogenic right ventricular cardiomyopathy	Likely benign (May 30, 2024)
18-31542513-C-G		Arrhythmogenic right ventricular dysplasia 10 • Cardiomyopathy	Conflicting classifications of pathogenicity (Jan 28, 2024)
18-31542517-C-T		Cardiomyopathy	Likely benign (Oct 01, 2021)
18-31542520-G-A		Arrhythmogenic right ventricular cardiomyopathy	Uncertain significance (Dec 13, 2023)
18-31542522-G-A		Arrhythmogenic right ventricular dysplasia 10 • Cardiomyopathy • Cardiovascular phenotype • Arrhythmogenic right ventricular cardiomyopathy	Conflicting classifications of pathogenicity (Jan 11, 2024)
18-31542522-G-T		Arrhythmogenic right ventricular dysplasia 10	Likely benign (Dec 04, 2023)
18-31542524-T-A		Cardiomyopathy • Arrhythmogenic right ventricular dysplasia 10 • Arrhythmogenic right ventricular cardiomyopathy	Uncertain significance (May 14, 2024)
18-31542525-G-A		Arrhythmogenic right ventricular dysplasia 10	Likely benign (Nov 04, 2021)
18-31542526-C-T		Cardiovascular phenotype	Uncertain significance (Oct 11, 2021)
18-31542527-C-T		Arrhythmogenic right ventricular cardiomyopathy	Uncertain significance (May 04, 2023)
18-31542526-C-CCAT		Arrhythmogenic right ventricular dysplasia 10	Uncertain significance (Apr 09, 2023)
18-31542528-A-G		Arrhythmogenic right ventricular dysplasia 10 • Cardiovascular phenotype	Likely benign (Jun 06, 2023)
18-31542532-T-C		Arrhythmogenic right ventricular dysplasia 10 • Cardiomyopathy	Uncertain significance (Jul 19, 2022)
18-31542537-G-C		Arrhythmogenic right ventricular dysplasia 10	Uncertain significance (Jan 13, 2018)
18-31542538-C-T		Arrhythmogenic right ventricular dysplasia 10 • Cardiomyopathy • Arrhythmogenic right ventricular cardiomyopathy	Uncertain significance (Sep 11, 2024)
18-31542544-G-A		Cardiomyopathy • Arrhythmogenic right ventricular cardiomyopathy	Uncertain significance (Feb 24, 2023)
18-31542544-G-C		Cardiovascular phenotype	Uncertain significance (Apr 14, 2020)
18-31542551-G-C		not specified • Cardiomyopathy • Arrhythmogenic right ventricular dysplasia 10;Dilated cardiomyopathy 1BB • Arrhythmogenic right ventricular dysplasia 10 • Cardiovascular phenotype • Arrhythmogenic right ventricular cardiomyopathy	Conflicting classifications of pathogenicity (Sep 23, 2024)
18-31542551-G-T		Arrhythmogenic right ventricular dysplasia 10	Uncertain significance (Mar 25, 2022)
18-31542553-G-A		Cardiomyopathy • Arrhythmogenic right ventricular dysplasia 10;Dilated cardiomyopathy 1BB • Arrhythmogenic right ventricular cardiomyopathy	Uncertain significance (Dec 05, 2022)
18-31542554-G-T		Cardiovascular phenotype	Likely benign (Mar 12, 2024)
18-31542558-T-C		Arrhythmogenic right ventricular dysplasia 10	Likely benign (Sep 26, 2022)
18-31542561-A-T		Cardiomyopathy • Arrhythmogenic right ventricular dysplasia 10 • Arrhythmogenic right ventricular cardiomyopathy	Likely benign (Dec 11, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP