NR2F1 p.Arg235=
c.705C>G · VCV4769025
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 3.5 | GERP -0.51, phastCons 1 |
| Overall | ||
| CADD | 14.75 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- NR2F1
- Protein
- p.Arg235=
- Coding
- c.705C>G
- MANE Select
- NM_005654
- Type
- single nucleotide variant
- Location
- chr5:93588158 (GRCh38)
- Gene constraint
- LOEUF 0.133 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 76.81 · 1 PDB
- Residue 235
- the nr lbd domain
Similar variants
- NR2F1 p.Arg235Leu Pathogenic ★ same residue
- NR2F1 c.463+1G>A Likely pathogenic ★★ same type
- NR2F1 p.Arg366Cys Likely pathogenic ★★ same type
- NR2F1 p.Cys106Tyr Pathogenic/Likely pathogenic ★★ same type
- NR2F1 p.Cys122Tyr Likely pathogenic ★★ same type
- NR2F1 p.Cys128Arg Likely pathogenic ★★ same type
- NR2F1 p.Cys146Tyr Pathogenic/Likely pathogenic ★★ same type
- NR2F1 p.Cys86Arg Pathogenic/Likely pathogenic ★★ 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/nr2f1-p-arg235 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown