ERG p.Pro6Leu
c.17C>T · rs201302788 · VCV3090149
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0214%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.24 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 8.9 | GERP 1.7, phastCons 1 |
| Overall | ||
| CADD | 25.8 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0214%
European (non-Finnish) · 252/1,179,794 alleles
Filtering AF
0.0192%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0183%
Overall
0.0161%
259/1,613,682 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0214% | 4,682 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,821 |
| East Asian | 0.00445% | 22,448 |
| African / African-American | 0.00267% | 37,449 |
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
- ERG
- Protein
- p.Pro6Leu
- Coding
- c.17C>T
- MANE Select
- NM_182918 · reported on NM_001243428
- dbSNP
- rs201302788
- Type
- single nucleotide variant
- Location
- chr21:38575684 (GRCh38)
- Gene constraint
- LOEUF 0.234 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 60.25 · 8 PDB
Similar variants
- ERG p.Asp363Gly Uncertain significance ★★ ⚠ same type
- ERG c.389-2A>G Uncertain significance ★ same type
- ERG c.40-56923A>G Uncertain significance ★ same type
- ERG c.674-1G>A Uncertain significance ★ same type
- ERG p.Ala368Thr Uncertain significance ★ ⚠ same type
- ERG p.Ala387Pro Uncertain significance ★ ⚠ same type
- ERG p.Ala88Asp Uncertain significance ★ ⚠ same type
- ERG p.Arg178Gly 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/erg-p-pro6leu (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown