RIGI p.Lys880=
c.2640G>A · rs1822949220 · VCV2047731
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000169%, nfe)
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 0.47 | GERP -1.8, phastCons 0.003 |
| Overall | ||
| CADD | 6.436 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000169%
European (non-Finnish) · 2/1,180,026 alleles
Filtering AF
2.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.1e-05%
Overall
0.000124%
2/1,614,154 alleles · very rare
exomes 2/1,461,876 · genomes 0/152,278 · 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
- RIGI
- Protein
- p.Lys880=
- Coding
- c.2640G>A
- MANE Select
- NM_014314
- dbSNP
- rs1822949220
- Type
- single nucleotide variant
- Location
- chr9:32457260 (GRCh38)
- Structure
- AlphaFold pLDDT 85.40 · 44 PDB
- Residue 880
- the rlr ctr domain; the 'interaction with zc3hav1' region; the 'mediates interaction with rnf135' region
Similar variants
- RIGI c.1923+1G>A Uncertain significance ★★ same type
- RIGI c.954-6T>G Uncertain significance ★★ same type
- RIGI p.Ala436Val Uncertain significance ★★ ⚠ same type
- RIGI p.Ala486Thr Uncertain significance ★★ ⚠ same type
- RIGI p.Ala537Ser Uncertain significance ★★ ⚠ same type
- RIGI p.Ala537Thr Uncertain significance ★★ ⚠ same type
- RIGI p.Ala774Thr Uncertain significance ★★ ⚠ same type
- RIGI p.Arg109Cys 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/rigi-p-lys880 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown