DSC2 p.Phe250fs
c.750del · VCV4014910
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Cardiovascular phenotype
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 0.62 | GERP -0.56, phastCons 0.66 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DSC2
- Protein
- p.Phe250fs
- Coding
- c.750del
- MANE Select
- NM_024422
- Type
- Deletion
- Location
- chr18:31087694 (GRCh38)
- Gene constraint
- LOEUF 0.743 · pLI <0.01 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 77.26 · 3 PDB
- Residue 250
- a β-strand; the cadherin 2 domain
Similar variants
- DSC2 p.Leu229fs Pathogenic ★★ same condition
- DSC2 p.Pro228_Leu229insTer Pathogenic ★★ same condition
- DSC2 p.Tyr196fs Pathogenic ★★ same condition
- DSC2 p.Gly193_Ser208del Uncertain significance ★★ same condition
- DSC2 p.Phe250Val Uncertain significance ★★ ⚠ same residue
- DSC2 p.Phe250= Likely benign ★★ same residue
- DSC2 p.Phe250Ser Likely pathogenic ★ same residue
- DSC2 c.2125+1del Conflicting classifications of pathogenicity ★ 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-phe250fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown