ETS1 p.Arg35=
c.103C>A · rs193272250 · VCV779150
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.323%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP 0.83, phastCons 1 |
| Overall | ||
| CADD | 9.341 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.323%
African / African-American · 242/74,980 alleles
Filtering AF
0.289%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.276%
Overall
0.0174%
280/1,612,628 alleles · rare
exomes 122/1,460,328 · genomes 158/152,300 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.323% | 310 |
| Admixed American | 0.0334% | 2,992 |
| Remaining individualsnot grpmax-eligible | 0.0224% | 4,460 |
| Middle Eastern | 0.0165% | 6,058 |
| South Asian | 0.0011% | 90,954 |
| European (non-Finnish) | 0.00017% | 589,508 |
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.Arg35=
- Coding
- c.103C>A
- MANE Select
- NM_001143820
- dbSNP
- rs193272250
- Type
- single nucleotide variant
- Location
- chr11:128556402 (GRCh38)
- Gene constraint
- LOEUF 0.393 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 65.95 · 21 PDB
Similar variants
- ETS1 p.Arg35Ter Likely pathogenic ★ same residue
- ETS1 c.*1736A>G Benign ★★ same type
- ETS1 p.Ala151Thr Likely benign ★★ same type
- ETS1 p.Arg307= Benign ★★ same type
- ETS1 p.Pro12= Benign ★★ same type
- ETS1 p.Ser200= Benign ★★ 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-arg35 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown