RORA p.Gln168=
c.504G>A · rs61740274 · VCV1273579
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 11%, mid) — too common for a highly-penetrant pathogenic allele
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 3.3 | GERP 5.1, phastCons 1 |
| Overall | ||
| CADD | 10.2 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
11%
Middle Eastern · 666/6,054 alleles
Filtering AF
10.3%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 10.2%
Overall
8.95%
144,382/1,614,046 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 11% | 9 |
| European (non-Finnish) | 10.2% | 10 |
| Ashkenazi Jewishnot grpmax-eligible | 8.38% | 12 |
| Remaining individualsnot grpmax-eligible | 8.15% | 12 |
| Finnishnot grpmax-eligible | 6.93% | 14 |
| Admixed American | 5.53% | 18 |
| Amishnot grpmax-eligible | 5.48% | 18 |
| South Asian | 4.85% | 21 |
| African / African-American | 4.35% | 23 |
| East Asian | 0.0267% | 3,740 |
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
- RORA
- Protein
- p.Gln168=
- Coding
- c.504G>A
- MANE Select
- NM_134261
- dbSNP
- rs61740274
- Type
- single nucleotide variant
- Location
- chr15:60511542 (GRCh38)
- Gene constraint
- LOEUF 0.207 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 76.40 · 3 PDB
- Residue 168
- the 'disordered' region
Similar variants
- RORA p.Arg462Ter Pathogenic/Likely pathogenic ★★ same type
- RORA p.Arg500Ter Pathogenic/Likely pathogenic ★★ same type
- RORA p.Ala11Val Uncertain significance ★★ ⚠ same type
- RORA p.Ala358Thr Uncertain significance ★★ same type
- RORA p.Ala7Ser Uncertain significance ★★ ⚠ same type
- RORA p.Arg170His Uncertain significance ★★ ⚠ same type
- RORA p.Arg462Gln Uncertain significance ★★ ⚠ same type
- RORA p.Arg47Thr 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/rora-p-gln168 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown