ETV6 p.Arg191=
c.573G>A · rs35030220 · VCV1336872
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
very rare (popmax 0.000339%, nfe)
Conditions
1
Inborn genetic diseases
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 5.1 | GERP -0.42, phastCons 1 |
| Overall | ||
| CADD | 6.434 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000339%
European (non-Finnish) · 4/1,180,008 alleles
Filtering AF
7.9e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 5.4e-05%
Overall
0.000248%
4/1,613,912 alleles · very rare
exomes 3/1,461,880 · genomes 1/152,032 · joint denominator
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
- ETV6
- Protein
- p.Arg191=
- Coding
- c.573G>A
- MANE Select
- NM_001987
- dbSNP
- rs35030220
- Type
- single nucleotide variant
- Location
- chr12:11869533 (GRCh38)
- Gene constraint
- LOEUF 0.44 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 62.61 · 43 PDB
- Residue 191
- the 'disordered' region
Similar variants
- ETV6 p.Arg191Gln Uncertain significance ★★ ⚠ same residue
- ETV6 p.Arg191Trp Uncertain significance ★★ ⚠ same residue
- ETV6 p.Arg191Gly Uncertain significance ★ ⚠ same residue
- ETV6 p.Arg191Leu Likely benign ★ same residue
- ETV6 p.Arg359Ter Pathogenic ★★ same condition
- ETV6 p.Arg369Gln Pathogenic/Likely pathogenic ★★ same condition
- ETV6 c.1010-3T>C Uncertain significance ★★ same condition
- ETV6 p.Ala247Gly Uncertain significance ★★ ⚠ same condition
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/etv6-p-arg191 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown