ETS1 p.Arg307=
c.921C>T · rs118149282 · VCV715411
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.11%, nfe)
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 0.89 | GERP -5.2, phastCons 0.99 |
| Overall | ||
| CADD | 6.796 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.11%
European (non-Finnish) · 13,119/1,179,974 alleles
Filtering AF
1.1%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.09%
Overall
0.946%
15,272/1,614,070 alleles · low-frequency
exomes 14,214/1,461,854 · genomes 1,058/152,216 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 1.11% | 90 |
| Ashkenazi Jewishnot grpmax-eligible | 0.885% | 113 |
| Remaining individualsnot grpmax-eligible | 0.859% | 116 |
| South Asian | 0.779% | 128 |
| Finnishnot grpmax-eligible | 0.44% | 227 |
| Admixed American | 0.407% | 246 |
| African / African-American | 0.149% | 670 |
| Amishnot grpmax-eligible | 0.11% | 912 |
| Middle Eastern | 0.066% | 1,514 |
| East Asian | 0.00446% | 22,440 |
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
- ETS1
- Protein
- p.Arg307=
- Coding
- c.921C>T
- MANE Select
- NM_001143820
- dbSNP
- rs118149282
- Type
- single nucleotide variant
- Location
- chr11:128480393 (GRCh38)
- Gene constraint
- LOEUF 0.393 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 65.95 · 21 PDB
- Residue 307
- an α-helix; the 'helix hi-1' region
Similar variants
- ETS1 p.Arg307His Uncertain significance ★ ⚠ same residue
- ETS1 c.*1736A>G Benign ★★ same type
- ETS1 p.Ala151Thr Likely benign ★★ same type
- ETS1 p.Pro12= Benign ★★ same type
- ETS1 p.Ser200= Benign ★★ same type
- ETS1 p.Arg35Ter Likely pathogenic ★ same type
- ETS1 p.Ala337Ser Uncertain significance ★ ⚠ same type
- ETS1 p.Ala338Val 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/ets1-p-arg307 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown