BAG3 p.Cys151His
c.451_452inv · VCV652124
Uncertain significance
Multiple submitters
Classification
Uncertain significance
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 5 submitters
gnomAD v4.1
Rare
Conditions
3
Cardiovascular phenotype
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 -0.17 | GERP -1.1, phastCons 0.48 |
| Regional constraint | o/e 1.04 | unconstrained · MANE · 26 kb · p 0.29 · regional, not allelic |
Variant & gene context
- Gene
- BAG3
- Protein
- p.Cys151His
- Coding
- c.451_452inv
- MANE Select
- NM_004281
- Type
- Inversion
- Location
- chr10:119670121 (GRCh38)
- Gene constraint
- LOEUF 0.538 · pLI 0.92 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 57.98
- Residue 151
- the ww 2 domain; a UniProt-annotated variant site (in); the 'disordered' region
Similar variants
- BAG3 p.Cys151Tyr Uncertain significance ★★ ⚠ same residue
- BAG3 p.Cys151Arg Benign/Likely benign ★★ same residue
- BAG3 p.Gln433Ter Pathogenic ★ same condition
- BAG3 p.Arg121Ter Pathogenic/Likely pathogenic ★★ same condition
- BAG3 p.Arg123Ter Pathogenic/Likely pathogenic ★★ same condition
- BAG3 p.Arg203fs Pathogenic ★★ same condition
- BAG3 p.Arg309Ter Pathogenic ★★ same condition
- BAG3 p.Arg473Ter Pathogenic/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/bag3-p-cys151his (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown