DSCAS

DSC1/DSC2 antisense RNA, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 18:31101540-31250873

Links

ENSG00000265888 ∙ NCBI:101927698 ∙ ∙ HGNC:51116 ∙ ∙ ∙ 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 DSCAS gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DSCAS 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)						0
splice region						0
non coding			6			6
Total	0	0	6	0	0

Variants in DSCAS

This is a list of pathogenic ClinVar variants found in the DSCAS region.

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

Position	Type	Phenotype	Significance	ClinVar
18-31101800-C-G			Likely benign (Jul 11, 2018)
18-31101815-A-AC			Likely benign (Jul 31, 2018)
18-31101874-C-T			Benign (Jun 14, 2018)
18-31101885-G-A		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Oct 17, 2024)
18-31101888-C-G		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Aug 31, 2022)
18-31101891-G-T		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Nov 15, 2021)
18-31101894-T-A		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Aug 01, 2022)
18-31101894-T-C		Arrhythmogenic right ventricular dysplasia 11 • DSC2-related disorder	Likely benign (Jul 08, 2024)
18-31101895-A-G		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Jan 11, 2025)
18-31101896-C-T		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Aug 05, 2021)
18-31101898-C-G		Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Mar 01, 2024)
18-31101898-C-T		Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Mar 24, 2022)
18-31101901-A-C		Arrhythmogenic right ventricular dysplasia 11	Likely pathogenic (Jul 05, 2019)
18-31101901-A-G		Cardiomyopathy • Arrhythmogenic right ventricular dysplasia 11	Conflicting classifications of pathogenicity (Apr 24, 2023)
18-31101902-C-T		Arrhythmogenic right ventricular dysplasia 11 • Cardiomyopathy	Conflicting classifications of pathogenicity (Mar 12, 2024)
18-31101903-C-A		Cardiomyopathy	Uncertain significance (Oct 11, 2022)
18-31101903-C-T		Cardiomyopathy • Cardiovascular phenotype	Uncertain significance (Aug 29, 2024)
18-31101904-G-A		Cardiovascular phenotype	Uncertain significance (Dec 09, 2020)
18-31101904-G-C		Familial isolated arrhythmogenic right ventricular dysplasia	Uncertain significance (Sep 04, 2023)
18-31101906-G-A		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Dec 16, 2024)
18-31101909-G-A		Cardiovascular phenotype • Familial isolated arrhythmogenic right ventricular dysplasia	Likely benign (May 04, 2023)
18-31101909-G-C		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Apr 03, 2024)
18-31101910-G-A		Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (May 01, 2023)
18-31101910-G-T		Arrhythmogenic right ventricular dysplasia 11 • Cardiomyopathy	Uncertain significance (Oct 28, 2023)
18-31101912-C-T		Cardiomyopathy • Arrhythmogenic right ventricular dysplasia 11 • Cardiovascular phenotype • Familial isolated arrhythmogenic right ventricular dysplasia	Likely benign (Jan 12, 2025)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP