Is PC p.Ile905del (c.2711TCA[1]) pathogenic?

PC p.Ile905del (c.2711TCA[1]) is classified Uncertain significance in PC (ClinVar, No assertion criteria, 1 submitter; last evaluated 2018-03-24). Absent from gnomAD; Associated with pyruvate carboxylase deficiency disease.

What condition is associated with PC p.Ile905del (c.2711TCA[1])?

PC p.Ile905del (c.2711TCA[1]) is associated with pyruvate carboxylase deficiency disease (ClinVar).

How common is PC p.Ile905del (c.2711TCA[1]) in the general population?

PC p.Ile905del (c.2711TCA[1]) is absent from gnomAD (gnomAD).

How is Pyruvate carboxylase deficiency inherited?

Typically Autosomal recessive, Not applicable (Orphanet). A genetic counselor can assess individual risk for a family.

PC p.Ile905del

c.2711TCA[1] · rs1555014903 · VCV557387

Uncertain significance No assertion criteria

Classification

Uncertain significance

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

pyruvate carboxylase deficiency disease

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.8	GERP 2.4, phastCons 1

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: PC
Protein: p.Ile905del
Coding: c.2711TCA[1]
MANE Select: NM_001040716
dbSNP: rs1555014903
Type: Microsatellite
Location: chr11:66850222 (GRCh38)
Gene constraint: LOEUF 0.539 · pLI 0.07 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 90.53 · 10 PDB

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

Disease context

pyruvate carboxylase deficiency disease — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Pyruvate carboxylase deficiency (Orphanet):

Inheritance: Autosomal recessive, Not applicable
Onset: Infancy, Neonatal
Prevalence: 1-9 / 1 000 000 (Europe)

Similar variants

PC p.Ile905= Likely benign ★ same residue
PC p.Val831_Phe832insTer Pathogenic ★★ same condition
PC c.2224-31TC[8] Benign/Likely benign ★★ same condition
PC p.Ala125fs Pathogenic ★ same condition
PC p.Asn669fs Pathogenic ★ same condition
PC p.Glu1046fs Pathogenic ★ same condition
PC p.Glu664fs Likely pathogenic ★ same condition
PC p.Ser705fs 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/pc-p-ile905del (accessed [today's date]).

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