ERCC4 p.Leu284=
c.850T>C · rs2032156864 · VCV2646238
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2 | GERP -1.1, phastCons 0.99 |
| Overall | ||
| CADD | 14.57 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ERCC4
- Protein
- p.Leu284=
- Coding
- c.850T>C
- MANE Select
- NM_005236
- dbSNP
- rs2032156864
- Type
- single nucleotide variant
- Location
- chr16:13930767 (GRCh38)
- Gene constraint
- LOEUF 0.984 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 74.60 · 13 PDB
- Residue 284
- the 'helicase-like' region; the 'leucine-zipper 2' region
Similar variants
- ERCC4 p.Leu284fs Pathogenic ★ same residue
- ERCC4 c.1102+1G>T Likely pathogenic ★★ same type
- ERCC4 c.793-2A>G Pathogenic ★★ same type
- ERCC4 p.Arg20Ter Pathogenic ★★ same type
- ERCC4 p.Arg589Trp Pathogenic/Likely pathogenic ★★ same type
- ERCC4 p.Arg689Ser Likely pathogenic ★★ same type
- ERCC4 p.Arg772Ter Pathogenic/Likely pathogenic ★★ same type
- ERCC4 p.Cys236Arg 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/ercc4-p-leu284 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown