RERE p.Pro822=
c.2466A>G · rs941756214 · VCV2638170
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0195%, mid)
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 -1 | GERP -2.2, phastCons 0.002 |
| Overall | ||
| CADD | 0.378 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0195%
Middle Eastern · 1/5,140 alleles
Overall
0.000281%
4/1,423,816 alleles · ultra-rare
exomes 4/1,275,936 · genomes 0/147,880 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0195% | 5,140 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00462% | 21,652 |
| South Asian | 0.00151% | 66,418 |
| European (non-Finnish) | 9.14e-05% | 1,094,154 |
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
- RERE
- Protein
- p.Pro822=
- Coding
- c.2466A>G
- MANE Select
- NM_001042681
- dbSNP
- rs941756214
- Type
- single nucleotide variant
- Location
- chr1:8361041 (GRCh38)
- Gene constraint
- LOEUF 0.459 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 54.51 · 1 PDB
- Residue 822
- the 'disordered' region
Similar variants
- RERE p.Pro822_Pro825del Uncertain significance ★ same residue
- RERE p.Gln858Ter Pathogenic/Likely pathogenic ★★ same type
- RERE p.His1429Arg Likely pathogenic ★★ same type
- RERE p.His1431Gln Pathogenic/Likely pathogenic ★★ ⚠ same type
- RERE p.His1433Pro Likely pathogenic ★★ ⚠ same type
- RERE p.His1435Arg Pathogenic/Likely pathogenic ★★ same type
- RERE p.His1435Leu Likely pathogenic ★★ same type
- RERE p.Pro1049Leu 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/rere-p-pro822 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown