DSC2

This page contains an overview of the genetic variation in the DSC2 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:

DSC2 gene and transcript details

Gene Name
desmocollin 2

Gene Links
Ensembl: ENSG00000134755 - Locus Reference Genomic: LRG_400

Genomic Location
Chromosome 18 : 28,647,981 - 28,681,934 (reverse strand)
View in: Ensembl - UCSC Genome Browser


Canonical Seqs Transcript (2703 bases)Protein (901 aa)
ENST00000280904 ENSP00000280904
LRG_400t2LRG_400p2
NM_024422.3
Q02487

Summary of DSC2 in Cardiomyopathies

ARVC - Arrhythmogenic Right Ventricular Cardiomyopathy - explore in detail
VarTypeARVC FreqExAC FreqCase Excess
All0.025640.009641.60%
Truncating0.005700.000260.54%
Non-Truncating0.019940.009381.06%
Based on an analysis of rare variants (MAF<0.0001) in DSC2 detected in a cohort of 351 ARVC patients sequenced at OMGL clinical laboratories, compared to ExAC controls.

DCM - Dilated Cardiomyopathy - explore in detail
VarTypeDCM FreqExAC FreqCase Excess
All0.004680.00964-0.50%
Truncating0.000000.00026-0.03%
Non-Truncating0.004680.00938-0.47%
Based on an analysis of rare variants (MAF<0.0001) in DSC2 detected in a cohort of 427 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.


DSC2 variants in ExAC

Details of the protein-altering DSC2 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.

Total VariantsCombined frequency of rare variants
All Variants3570.00532
Truncating170.00013
Missense3080.00463
Inframe60.00006
Splice Site260.00050

Rare variants are defined as having a mean allelic frequency of less than 0.0001.