PRKAG2 p.Phe294=
c.882T>C · rs1554465561 · VCV508291
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 8.52e-05%, nfe)
Conditions
1
hypertrophic cardiomyopathy
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 1.1 | GERP 0.47, phastCons 0.99 |
| Overall | ||
| CADD | 9.246 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.52e-05%
European (non-Finnish) · 1/1,173,802 alleles
Overall
6.22e-05%
1/1,607,258 alleles · very rare
exomes 1/1,454,888 · genomes 0/152,370 · joint denominator
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
- PRKAG2
- Protein
- p.Phe294=
- Coding
- c.882T>C
- MANE Select
- NM_016203
- dbSNP
- rs1554465561
- Type
- single nucleotide variant
- Location
- chr7:151576435 (GRCh38)
- Gene constraint
- LOEUF 0.582 · pLI 0.20 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 67.24
- Residue 294
- the cbs 1 domain
Similar variants
- PRKAG2 p.Phe294Leu Uncertain significance ★ ⚠ same residue
- PRKAG2 p.Arg302Gln Pathogenic ★★ same condition
- PRKAG2 p.Arg531Gln Pathogenic ★★ same condition
- PRKAG2 p.Glu506Gln Likely pathogenic ★★ same condition
- PRKAG2 p.His530Arg Pathogenic ★★ same condition
- PRKAG2 p.Phe293Leu Pathogenic/Likely pathogenic ★★ same condition
- PRKAG2 p.Thr400Asn Likely pathogenic ★★ same condition
- PRKAG2 c.1107-3C>T 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/prkag2-p-phe294 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown