ERI1 p.Arg291=
c.873G>C · rs34911286 · VCV768227
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.6%, afr)
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 -0.058 | GERP -1.4, phastCons 0.14 |
| Overall | ||
| CADD | 4.911 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.6%
African / African-American · 2,701/75,012 alleles
Filtering AF
3.49%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.44%
Overall
0.193%
3,112/1,614,138 alleles · low-frequency
exomes 1,539/1,461,882 · genomes 1,573/152,256 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.6% | 28 |
| Admixed American | 0.298% | 335 |
| Remaining individualsnot grpmax-eligible | 0.259% | 386 |
| Middle Eastern | 0.181% | 551 |
| South Asian | 0.0132% | 7,590 |
| European (non-Finnish) | 0.00398% | 25,107 |
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
- ERI1
- Protein
- p.Arg291=
- Coding
- c.873G>C
- MANE Select
- NM_153332
- dbSNP
- rs34911286
- Type
- single nucleotide variant
- Location
- chr8:9029857 (GRCh38)
- Gene constraint
- LOEUF 1.526 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.04 · 5 PDB
- Residue 291
- a UniProt-annotated variant site (in semdgc; likely pathogenic); a UniProt-annotated variant site (in hxal; likely pathogenic); the exonuclease domain
Similar variants
- ERI1 p.Ser333Tyr Uncertain significance ★★ ⚠ same type
- ERI1 p.Thr221Ala Uncertain significance ★★ ⚠ same type
- ERI1 p.Arg304Ter Likely pathogenic ★ same type
- ERI1 p.Asp134Gly Likely pathogenic ★ same type
- ERI1 p.Asp298Gly Likely pathogenic ★ same type
- ERI1 p.Gln244Ter Likely pathogenic ★ same type
- ERI1 p.Glu150Asp Likely pathogenic ★ same type
- ERI1 p.Lys118Ter 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/eri1-p-arg291 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown