DSC2 p.Ala718fs
c.2152del · rs760915248 · VCV1338797
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 14 of 16 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.53 | GERP -0.96 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- DSC2
- Protein
- p.Ala718fs
- Coding
- c.2152del
- MANE Select
- NM_024422
- dbSNP
- rs760915248
- Type
- Deletion
- Location
- chr18:31070824 (GRCh38)
- Gene constraint
- LOEUF 0.743 · pLI <0.01 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 77.26 · 3 PDB
- Residue 718
- a UniProt-annotated variant site (in arvd11; likely pathogenic; mislocalization of dsc2 to the cytoplasm within intercalated disks of the heart)
Disease context
familial isolated arrhythmogenic right ventricular dysplasia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: cardiomyopathyarrhythmogenic right ventricular dysplasia 11
For Inherited isolated arrhythmogenic cardiomyopathy (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- No data available
Similar variants
- DSC2 p.Ala718Ser Uncertain significance ★★ ⚠ same residue
- DSC2 p.Gln158fs Pathogenic/Likely pathogenic ★★ same condition
- DSC2 p.Ile26fs Pathogenic/Likely pathogenic ★★ same condition
- DSC2 p.Leu229fs Pathogenic ★★ same condition
- DSC2 p.Lys42fs Pathogenic/Likely pathogenic ★★ same condition
- DSC2 p.Phe708fs Pathogenic/Likely pathogenic ★★ same condition
- DSC2 p.Pro228_Leu229insTer Pathogenic ★★ same condition
- DSC2 p.Pro729fs Pathogenic ★★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/dsc2-p-ala718fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown