FARSB p.Asp567=
c.1701C>T · rs141929079 · VCV1581206
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0191%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>C here scores Δ0.28 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -5.3 | GERP -4.2 |
| Overall | ||
| CADD | 1.096 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0191%
European (non-Finnish) · 225/1,179,802 alleles
Filtering AF
0.017%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0162%
Overall
0.0145%
234/1,613,606 alleles · ultra-rare
exomes 219/1,461,586 · genomes 15/152,020 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0191% | 5,244 |
| Admixed American | 0.00501% | 19,980 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,828 |
| African / African-American | 0.00267% | 37,422 |
| South Asian | 0.0011% | 91,062 |
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.Asp567=
- Coding
- c.1701C>T
- MANE Select
- NM_005687
- dbSNP
- rs141929079
- Type
- single nucleotide variant
- Location
- chr2:222571940 (GRCh38)
- Gene constraint
- LOEUF 1.131 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 94.71 · 3 PDB
- Residue 567
- an α-helix
Similar variants
- 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
- FARSB p.Arg466Cys 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-asp567 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown