FTCD p.Ala361fs
c.1081_1096del · VCV3587707
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
formiminoglutamic aciduria
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 9 of 14 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.1 | GERP 0.42, phastCons 1 |
| Region caveats | ||
| Repeat context | tandem | (CGC)n simple repeat · ambiguous alignment · confidence, not pathogenicity |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- FTCD
- Protein
- p.Ala361fs
- Coding
- c.1081_1096del
- MANE Select
- NM_206965
- Type
- Deletion
- Location
- chr21:46145820 (GRCh38)
- Gene constraint
- LOEUF 1.61 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 95.30
- Residue 361
- the 'cyclodeaminase/cyclohydrolase' region
Disease context
formiminoglutamic aciduria — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Formiminoglutamic aciduria (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Childhood
Similar variants
- FTCD p.Ala62fs Likely pathogenic ★★ same condition
- FTCD p.Val344fs Pathogenic/Likely pathogenic ★★ same condition
- FTCD p.Ala361Val Uncertain significance ★★ same residue
- FTCD c.1068_1098+24del Likely pathogenic ★ same condition
- FTCD c.1443+1del Likely pathogenic ★ same condition
- FTCD p.Arg333fs Likely pathogenic ★ same condition
- FTCD p.Glu332fs Likely pathogenic ★ same condition
- FTCD p.Glu431fs Likely pathogenic ★ 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-ala361fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown