GeneBe

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
clinvar
3
clinvar
2
clinvar
1
clinvar
 7
splice region
0
non coding
2
clinvar
19
clinvar
324
clinvar
190
clinvar
20
clinvar
 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)1282283
18-31542385-A-G Benign (Jul 11, 2018)1228015
18-31542510-G-T Arrhythmogenic right ventricular cardiomyopathy Likely benign (May 30, 2024)3386593
18-31542513-C-G Arrhythmogenic right ventricular dysplasia 10 • Cardiomyopathy Conflicting classifications of pathogenicity (Jan 28, 2024)1353515
18-31542517-C-T Cardiomyopathy Likely benign (Oct 01, 2021)2775233
18-31542520-G-A Arrhythmogenic right ventricular cardiomyopathy Uncertain significance (Dec 13, 2023)3069682
18-31542522-G-A Arrhythmogenic right ventricular dysplasia 10 • Cardiomyopathy • Cardiovascular phenotype • Arrhythmogenic right ventricular cardiomyopathy Conflicting classifications of pathogenicity (Jan 11, 2024)410369
18-31542522-G-T Arrhythmogenic right ventricular dysplasia 10 Likely benign (Dec 04, 2023)2700773
18-31542524-T-A Cardiomyopathy • Arrhythmogenic right ventricular dysplasia 10 • Arrhythmogenic right ventricular cardiomyopathy Uncertain significance (May 14, 2024)576360
18-31542525-G-A Arrhythmogenic right ventricular dysplasia 10 Likely benign (Nov 04, 2021)1549222
18-31542526-C-T Cardiovascular phenotype Uncertain significance (Oct 11, 2021)1784355
18-31542527-C-T Arrhythmogenic right ventricular cardiomyopathy Uncertain significance (May 04, 2023)3070900
18-31542526-C-CCAT Arrhythmogenic right ventricular dysplasia 10 Uncertain significance (Apr 09, 2023)2853752
18-31542528-A-G Arrhythmogenic right ventricular dysplasia 10 • Cardiovascular phenotype Likely benign (Jun 06, 2023)761674
18-31542532-T-C Arrhythmogenic right ventricular dysplasia 10 • Cardiomyopathy Uncertain significance (Jul 19, 2022)1388667
18-31542537-G-C Arrhythmogenic right ventricular dysplasia 10 Uncertain significance (Jan 13, 2018)326482
18-31542538-C-T Arrhythmogenic right ventricular dysplasia 10 • Cardiomyopathy • Arrhythmogenic right ventricular cardiomyopathy Uncertain significance (Sep 11, 2024)1476782
18-31542544-G-A Cardiomyopathy • Arrhythmogenic right ventricular cardiomyopathy Uncertain significance (Feb 24, 2023)1332397
18-31542544-G-C Cardiovascular phenotype Uncertain significance (Apr 14, 2020)1784660
18-31542549-A-C Cardiovascular phenotype Likely benign (Aug 31, 2024)3505415
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)178021
18-31542551-G-T Arrhythmogenic right ventricular dysplasia 10 Uncertain significance (Mar 25, 2022)1922233
18-31542553-G-A Cardiomyopathy • Arrhythmogenic right ventricular dysplasia 10;Dilated cardiomyopathy 1BB • Arrhythmogenic right ventricular cardiomyopathy Uncertain significance (Dec 05, 2022)920812
18-31542554-G-T Cardiovascular phenotype Likely benign (Mar 12, 2024)3221939
18-31542558-T-C Arrhythmogenic right ventricular dysplasia 10 Likely benign (Sep 26, 2022)1975020

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP