FTCD p.Thr244=
c.732G>A · rs201364918 · VCV3042868
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0143%, sas)
Conditions
1
FTCD-related disorder
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 -9.7 | GERP -2.8 |
| Overall | ||
| CADD | 2.662 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0143%
South Asian · 13/91,082 alleles
Filtering AF
0.00844%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00661%
Overall
0.0013%
21/1,613,128 alleles · ultra-rare
exomes 17/1,460,780 · genomes 4/152,348 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0143% | 7,006 |
| Admixed American | 0.00333% | 30,010 |
| African / African-American | 0.00266% | 37,534 |
| East Asian | 0.00223% | 44,876 |
| European (non-Finnish) | 0.000254% | 393,301 |
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.Thr244=
- Coding
- c.732G>A
- MANE Select
- NM_206965
- dbSNP
- rs201364918
- Type
- single nucleotide variant
- Location
- chr21:46150430 (GRCh38)
- Gene constraint
- LOEUF 1.61 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 95.30
- Residue 244
- the 'formiminotransferase c-subdomain' region
Disease context
FTCD-related disorder
Similar variants
- FTCD p.Thr244Met Uncertain significance ★ ⚠ same residue
- FTCD p.Arg71Ter Pathogenic/Likely pathogenic ★★ same condition
- FTCD p.Arg333Ter Likely pathogenic ★ same condition
- FTCD-AS1 n.71A>G Likely benign same condition
- FTCD c.367+10C>G Likely benign same condition
- FTCD c.*80C>G Likely benign same condition
- FTCD p.Phe51= Likely benign same condition
- FTCD p.Thr564Lys Likely benign same condition
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-thr244 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown