FARSB p.Asp66=
c.198C>T · VCV4753202
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0495%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.29 | acceptor gain · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -3 | |
| Overall | ||
| CADD | 13.28 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0495%
Middle Eastern · 3/6,056 alleles
Filtering AF
0.0134%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00719%
Overall
0.00378%
61/1,612,008 alleles · ultra-rare
exomes 51/1,459,728 · genomes 10/152,280 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0495% | 2,019 |
| Remaining individualsnot grpmax-eligible | 0.00961% | 10,405 |
| South Asian | 0.00769% | 13,000 |
| East Asian | 0.00446% | 22,426 |
| European (non-Finnish) | 0.0034% | 29,455 |
| African / African-American | 0.00267% | 37,500 |
| Admixed American | 0.00167% | 60,008 |
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.Asp66=
- Coding
- c.198C>T
- MANE Select
- NM_005687
- Type
- single nucleotide variant
- Location
- chr2:222642922 (GRCh38)
- Gene constraint
- LOEUF 1.131 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 94.71 · 3 PDB
- Residue 66
- a β-strand
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-asp66 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown