ERCC1 p.Pro111=
c.333C>T · rs200767762 · VCV3053329
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00475%, nfe)
Conditions
1
ERCC1-related disorder
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 -14 | GERP -3.3 |
| Overall | ||
| CADD | 0.025 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00475%
European (non-Finnish) · 56/1,179,050 alleles
Filtering AF
0.00375%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00337%
Overall
0.00372%
60/1,612,560 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00475% | 21,054 |
| African / African-American | 0.00267% | 37,469 |
| East Asian | 0.00223% | 44,854 |
| South Asian | 0.0011% | 90,858 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- ERCC1
- Protein
- p.Pro111=
- Coding
- c.333C>T
- MANE Select
- NM_001983
- dbSNP
- rs200767762
- Type
- single nucleotide variant
- Location
- chr19:45420416 (GRCh38)
- Gene constraint
- LOEUF 1.306 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 77.48 · 14 PDB
- Residue 111
- an α-helix
Disease context
ERCC1-related disorder
Similar variants
- ERCC1 c.526-1G>A Likely pathogenic ★★ same condition
- ERCC1 p.Phe231Leu Pathogenic ★ ⚠ same condition
- ERCC1 c.844-9C>T Likely benign same condition
- ERCC1 c.*9G>C Likely benign same condition
- ERCC1 p.Arg41Ter Pathogenic ★★ same type
- ERCC1 c.843+52A>G Uncertain significance ★★ same type
- ERCC1 p.Ala265Thr Uncertain significance ★★ ⚠ same type
- ERCC1 p.Arg156Gln Uncertain significance ★★ ⚠ 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/ercc1-p-pro111 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown