Is PCK2 p.Arg296= (c.888C>T) pathogenic?

PCK2 p.Arg296= (c.888C>T) is classified Likely benign in PCK2 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-09-29). No allele count reported in gnomAD v4.1 (AN 1,610,720).

How common is PCK2 p.Arg296= (c.888C>T) in the general population?

PCK2 p.Arg296= (c.888C>T) is no allele count reported in gnomAD v4.1 (AN 1,610,720) (gnomAD).

PCK2 p.Arg296=

c.888C>T · VCV4765220

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,610,720)

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -0.33	GERP -5.5, phastCons 0.023
Overall
CADD	7.136	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,610,720). 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: PCK2
Protein: p.Arg296=
Coding: c.888C>T
MANE Select: NM_004563
Type: single nucleotide variant
Location: chr14:24099593 (GRCh38)

Full PCK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

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/pck2-p-arg296 (accessed [today's date]).

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