FGB p.Arg72=
c.216G>A · rs553042170 · VCV700215
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.198%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.17 | GERP -5.1 |
| Overall | ||
| CADD | 5.793 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.198%
Middle Eastern · 12/6,056 alleles
Filtering AF
0.114%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0896%
Overall
0.0031%
50/1,614,040 alleles · rare
exomes 46/1,461,812 · genomes 4/152,228 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.198% | 505 |
| African / African-American | 0.0253% | 3,948 |
| Remaining individualsnot grpmax-eligible | 0.0112% | 8,929 |
| European (non-Finnish) | 0.00102% | 98,336 |
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
- FGB
- Protein
- p.Arg72=
- Coding
- c.216G>A
- MANE Select
- NM_005141
- dbSNP
- rs553042170
- Type
- single nucleotide variant
- Location
- chr4:154565909 (GRCh38)
- Gene constraint
- LOEUF 0.662 · pLI 0.02 (gnomAD)
- Structure
- AlphaFold pLDDT 84.43 · 41 PDB
- Residue 72
- a UniProt-annotated variant site (in new york-1); the 'disordered' region
Similar variants
- FGB p.Arg72Gln Uncertain significance ★ ⚠ same residue
- FGB p.Arg44Cys Pathogenic/Likely pathogenic ★★ ⚠ same type
- FGB p.Arg47Ter Pathogenic/Likely pathogenic ★★ same type
- FGB p.Arg199Cys Uncertain significance ★★ ⚠ same type
- FGB p.Arg199His Uncertain significance ★★ ⚠ same type
- FGB p.Arg224His Uncertain significance ★★ ⚠ same type
- FGB p.Arg395Gly Uncertain significance ★★ ⚠ same type
- FGB p.Arg47Gln 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/fgb-p-arg72 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown