GEMIN4 p.Pro634=
c.1902C>T · rs200492563 · VCV3039695
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.835%, 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 -3.2 | GERP -4.3 |
| Overall | ||
| CADD | 0.163 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.835%
African / African-American · 627/75,050 alleles
Filtering AF
0.781%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.76%
Overall
0.0449%
725/1,613,924 alleles · rare
exomes 386/1,461,630 · genomes 339/152,294 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.835% | 120 |
| Admixed American | 0.06% | 1,667 |
| Remaining individualsnot grpmax-eligible | 0.0576% | 1,736 |
| Middle Eastern | 0.0165% | 6,062 |
| South Asian | 0.00878% | 11,385 |
| 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.Pro634=
- Coding
- c.1902C>T
- MANE Select
- NM_015721
- dbSNP
- rs200492563
- Type
- single nucleotide variant
- Location
- chr17:746141 (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-pro634 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown