ERCC2 p.Tyr285Ter
c.854dup · VCV3639283
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 10 of 23 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4.9 | GERP 1.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ERCC2
- Protein
- p.Tyr285Ter
- Coding
- c.854dup
- MANE Select
- NM_000400
- Type
- Duplication
- Location
- chr19:45364080 (GRCh38)
- Gene constraint
- LOEUF 1.089 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 87.74 · 55 PDB
- Residue 285
- an α-helix
Similar variants
- ERCC2 p.Tyr285fs Pathogenic ★ same residue
- ERCC2 p.Tyr285Ser Uncertain significance ★ ⚠ same residue
- ERCC2 p.Tyr285= Likely benign ★ same residue
- ERCC2 c.1377+1dup Likely pathogenic ★★ same type
- ERCC2 c.1479+2dup Pathogenic/Likely pathogenic ★★ same type
- ERCC2 p.Ala600fs Likely pathogenic ★★ same type
- ERCC2 p.His729fs Pathogenic/Likely pathogenic ★★ same type
- ERCC2 p.Ile432fs Pathogenic/Likely pathogenic ★★ 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/ercc2-p-tyr285ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown