UQCC2 p.Arg34=
c.102G>A · rs756874468 · VCV2502801
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0329%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.48 | donor loss at this position · masked 0 · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 4.7 | GERP 2, phastCons 1 |
| Overall | ||
| CADD | 14.99 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0329%
Middle Eastern · 2/6,084 alleles
Filtering AF
0.00623%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00467%
Overall
0.00279%
45/1,613,832 alleles · ultra-rare
exomes 42/1,461,552 · genomes 3/152,280 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0329% | 3,042 |
| African / African-American | 0.012% | 8,326 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,825 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,586 |
| European (non-Finnish) | 0.00246% | 40,687 |
| South Asian | 0.0011% | 91,076 |
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
- UQCC2
- Protein
- p.Arg34=
- Coding
- c.102G>A
- MANE Select
- NM_032340
- dbSNP
- rs756874468
- Type
- single nucleotide variant
- Location
- chr6:33711585 (GRCh38)
- Gene constraint
- LOEUF 1.398 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.94
Similar variants
- UQCC2 p.Arg34Gln Pathogenic ⚠ same residue
- UQCC2 c.214-9G>A Uncertain significance ★★ same type
- UQCC2 c.283+3A>C Uncertain significance ★★ same type
- UQCC2 p.Ala2Thr Uncertain significance ★★ ⚠ same type
- UQCC2 p.Ala38Thr Uncertain significance ★★ ⚠ same type
- UQCC2 p.Ala61Val Uncertain significance ★★ ⚠ same type
- UQCC2 p.Gln46= Uncertain significance ★★ same type
- UQCC2 p.Thr21Pro 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/uqcc2-p-arg34 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown