DSC2 p.Ile252fs
c.754del · rs2510952363 · VCV3074668
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 6 of 16 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 2, phastCons 1 |
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.Ile252fs
- Coding
- c.754del
- MANE Select
- NM_024422
- dbSNP
- rs2510952363
- Type
- Deletion
- Location
- chr18:31087690 (GRCh38)
- Gene constraint
- LOEUF 0.743 · pLI <0.01 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 77.26 · 3 PDB
- Residue 252
- a β-strand; the cadherin 2 domain
Disease context
familial isolated arrhythmogenic right ventricular dysplasia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: arrhythmogenic right ventricular dysplasia 11
For Inherited isolated arrhythmogenic cardiomyopathy (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- No data available
Similar variants
- DSC2 p.Ile252Val Conflicting classifications of pathogenicity ★ ⚠ 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-ile252fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown