ETS1 p.Ser200=
c.600G>A · rs149636924 · VCV777426
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.23%, sas)
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 2.7 | GERP 2.5, phastCons 1 |
| Overall | ||
| CADD | 15.89 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.23%
South Asian · 2,931/90,844 alleles
Filtering AF
3.13%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.09%
Overall
0.252%
4,050/1,607,380 alleles · low-frequency
exomes 3,749/1,455,328 · genomes 301/152,052 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 3.23% | 31 |
| Middle Eastern | 0.694% | 144 |
| Ashkenazi Jewishnot grpmax-eligible | 0.606% | 165 |
| Remaining individualsnot grpmax-eligible | 0.286% | 350 |
| Admixed American | 0.0634% | 1,577 |
| European (non-Finnish) | 0.0568% | 1,760 |
| African / African-American | 0.0187% | 5,342 |
| Finnishnot grpmax-eligible | 0.00156% | 63,966 |
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.Ser200=
- Coding
- c.600G>A
- MANE Select
- NM_001143820
- dbSNP
- rs149636924
- Type
- single nucleotide variant
- Location
- chr11:128486082 (GRCh38)
- Gene constraint
- LOEUF 0.393 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 65.95 · 21 PDB
- Residue 200
- the 'activation domain; required for transcription activation' region
Similar variants
- 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.Arg35Ter Likely pathogenic ★ same type
- ETS1 p.Ala337Ser Uncertain significance ★ ⚠ same type
- ETS1 p.Ala338Val Uncertain significance ★ ⚠ same type
- ETS1 p.Ala475Thr 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-ser200 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown