DDB2 p.Phe194fs
c.581_582del · VCV4911476
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
DDB2-related disorder
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 4 of 10 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6.5 | GERP 1.3, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DDB2
- Protein
- p.Phe194fs
- Coding
- c.581_582del
- MANE Select
- NM_000107
- Type
- Deletion
- Location
- chr11:47232935 (GRCh38)
- Gene constraint
- LOEUF 0.719 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 83.69 · 10 PDB
- Residue 194
- a β-strand
Disease context
DDB2-related disorder
Similar variants
- DDB2 p.Val267fs Likely pathogenic ★ same condition
- DDB2 p.Arg192Ter Pathogenic/Likely pathogenic ★★ same condition
- DDB2 c.1234+1del Uncertain significance ★ same type
- DDB2 p.Asn349del Uncertain significance ★ same type
- DDB2 p.Lys243_Lys244del Uncertain significance ★ same type
- DDB2 c.881-17del Benign ★ same type
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/ddb2-p-phe194fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown