FTCD p.Leu279=
c.835C>T · rs112198665 · VCV703099
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.396%, eas)
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 2.7 | GERP -0.76, phastCons 1 |
| Overall | ||
| CADD | 2.608 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.396%
East Asian · 177/44,750 alleles
Filtering AF
0.348%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.33%
Overall
0.0114%
184/1,609,556 alleles · rare
exomes 176/1,457,266 · genomes 8/152,290 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.396% | 253 |
| Remaining individualsnot grpmax-eligible | 0.00962% | 10,391 |
| European (non-Finnish) | 8.49e-05% | 1,178,507 |
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
- FTCD
- Protein
- p.Leu279=
- Coding
- c.835C>T
- MANE Select
- NM_206965
- dbSNP
- rs112198665
- Type
- single nucleotide variant
- Location
- chr21:46150190 (GRCh38)
- Gene constraint
- LOEUF 1.61 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 95.30
- Residue 279
- the 'formiminotransferase c-subdomain' region
Similar variants
- FTCD p.Arg255Ter Pathogenic ★★ same type
- FTCD p.Arg71Ter Pathogenic/Likely pathogenic ★★ same type
- FTCD p.Leu536Ter Pathogenic/Likely pathogenic ★★ same type
- FTCD p.Ala108Thr Uncertain significance ★★ ⚠ same type
- FTCD p.Ala159Val Uncertain significance ★★ ⚠ same type
- FTCD p.Ala352Val Uncertain significance ★★ ⚠ same type
- FTCD p.Ala361Val Uncertain significance ★★ same type
- FTCD p.Ala368Val 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/ftcd-p-leu279 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown