FARSB p.Arg547=
c.1641A>C · rs77827981 · VCV1599295
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.62%, eas)
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 -1.3 | GERP -4.2, phastCons 0.001 |
| Overall | ||
| CADD | 5.644 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.62%
East Asian · 725/44,868 alleles
Filtering AF
1.52%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.48%
Overall
0.0524%
845/1,613,422 alleles · low-frequency
exomes 756/1,461,270 · genomes 89/152,152 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 1.62% | 62 |
| Remaining individualsnot grpmax-eligible | 0.174% | 573 |
| Admixed American | 0.00501% | 19,952 |
| South Asian | 0.0011% | 90,962 |
| European (non-Finnish) | 0.000593% | 168,545 |
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
- FARSB
- Protein
- p.Arg547=
- Coding
- c.1641A>C
- MANE Select
- NM_005687
- dbSNP
- rs77827981
- Type
- single nucleotide variant
- Location
- chr2:222572000 (GRCh38)
- Gene constraint
- LOEUF 1.131 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 94.71 · 3 PDB
- Residue 547
- a β-strand
Similar variants
- FARSB p.Arg547Ter Uncertain significance ★ same residue
- FARSB c.848+1G>A Pathogenic/Likely pathogenic ★★ same type
- FARSB p.Glu285Lys Pathogenic/Likely pathogenic ★★ same type
- FARSB c.716-3C>T Uncertain significance ★★ same type
- FARSB p.Ala287Gly Uncertain significance ★★ ⚠ same type
- FARSB p.Arg127Cys Uncertain significance ★★ ⚠ same type
- FARSB p.Arg127His Uncertain significance ★★ ⚠ same type
- FARSB p.Arg135Leu 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/farsb-p-arg547 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown