Is FTCD p.Asn64= (c.192C>T) pathogenic?

FTCD p.Asn64= (c.192C>T) is classified Benign/Likely benign in FTCD (ClinVar, Multiple submitters, 2 submitters; last evaluated 2026-01-14). Low-frequency (popmax 1.03%, eas); Associated with formiminoglutamic aciduria.

What condition is associated with FTCD p.Asn64= (c.192C>T)?

FTCD p.Asn64= (c.192C>T) is associated with formiminoglutamic aciduria (ClinVar).

How common is FTCD p.Asn64= (c.192C>T) in the general population?

FTCD p.Asn64= (c.192C>T) is low-frequency (popmax 1.03%, eas) (gnomAD).

How is Formiminoglutamic aciduria inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

FTCD p.Asn64=

c.192C>T · rs148787454 · VCV340445

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

low-frequency (popmax 1.03%, eas)

Conditions

formiminoglutamic aciduria

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 -4.3	GERP -2.8
Overall
CADD	2.013	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 1.03% East Asian · 461/44,870 alleles

Filtering AF 0.95% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.919%

Overall 0.045% 725/1,612,842 alleles · low-frequency exomes 614/1,460,512 · genomes 111/152,330 · joint denominator

Ancestry group	Frequency	1 in
East Asiangrpmax	1.03%	97
Remaining individualsnot grpmax-eligible	0.0864%	1,157
African / African-American	0.0346%	2,887
South Asian	0.0318%	3,141
Middle Eastern	0.0165%	6,060
European (non-Finnish)	0.0128%	7,814
Admixed American	0.00333%	30,016
Finnishnot grpmax-eligible	0.00159%	62,758

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.Asn64=
Coding: c.192C>T
MANE Select: NM_206965
dbSNP: rs148787454
Type: single nucleotide variant
Location: chr21:46154195 (GRCh38)
Gene constraint: LOEUF 1.61 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 95.30
Residue 64: the 'formiminotransferase n-subdomain' region

Full FTCD gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

formiminoglutamic aciduria — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Formiminoglutamic aciduria (Orphanet):

Inheritance: Autosomal recessive
Onset: Childhood

Similar variants

FTCD p.Arg255Ter Pathogenic ★★ same condition
FTCD p.Arg71Ter Pathogenic/Likely pathogenic ★★ same condition
FTCD p.Leu536Ter Pathogenic/Likely pathogenic ★★ same condition
FTCD p.Ala108Thr Uncertain significance ★★ ⚠ same condition
FTCD p.Ala159Val Uncertain significance ★★ ⚠ same condition
FTCD p.Ala368Val Uncertain significance ★★ ⚠ same condition
FTCD p.Ala418Thr Uncertain significance ★★ ⚠ same condition
FTCD p.Ala455Thr Uncertain significance ★★ ⚠ 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-asn64 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown