GEMIN4 p.Arg235=
c.705G>A · rs368236142 · VCV723440
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 2.87%, sas)
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 2.8 | GERP -0.013, phastCons 1 |
| Overall | ||
| CADD | 3.438 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.87%
South Asian · 2,612/91,076 alleles
Filtering AF
2.78%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.74%
Overall
0.17%
2,750/1,613,768 alleles · low-frequency
exomes 2,568/1,461,460 · genomes 182/152,308 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 2.87% | 35 |
| Remaining individualsnot grpmax-eligible | 0.17% | 589 |
| Middle Eastern | 0.0825% | 1,212 |
| African / African-American | 0.00799% | 12,509 |
| Admixed American | 0.00666% | 15,006 |
| European (non-Finnish) | 0.00144% | 69,405 |
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
- GEMIN4
- Protein
- p.Arg235=
- Coding
- c.705G>A
- MANE Select
- NM_015721
- dbSNP
- rs368236142
- Type
- single nucleotide variant
- Location
- chr17:747338 (GRCh38)
- Gene constraint
- LOEUF 0.947 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.54
Similar variants
- GEMIN4 p.Trp818Arg Pathogenic/Likely pathogenic ★★ same type
- GEMIN4 p.Ala186Val Uncertain significance ★★ ⚠ same type
- GEMIN4 p.Arg91Gln Uncertain significance ★★ ⚠ same type
- GEMIN4 p.Gln1032Ter Uncertain significance ★★ same type
- GEMIN4 p.Gly814Glu Uncertain significance ★★ ⚠ same type
- GEMIN4 p.Ile406Val Uncertain significance ★★ ⚠ same type
- GEMIN4 p.Leu178Val Uncertain significance ★★ ⚠ same type
- GEMIN4 p.Ser755Phe 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/gemin4-p-arg235 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown