BAG3 p.Phe442fs
c.1326del · VCV3817068
Likely pathogenic
Multiple submitters
Classification
Likely pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
BAG3-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (4 of 4) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.2 | GERP 1.5, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BAG3
- Protein
- p.Phe442fs
- Coding
- c.1326del
- MANE Select
- NM_004281
- Type
- Deletion
- Location
- chr10:119676878 (GRCh38)
- Gene constraint
- LOEUF 0.538 · pLI 0.92 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 57.98
- Residue 442
- the bag domain
Disease context
BAG3-related disorder
Similar variants
- BAG3 p.Glu360fs Likely pathogenic ★★ same condition
- BAG3 p.Tyr114fs Likely pathogenic ★ same condition
- BAG3 p.Val314fs Likely pathogenic ★ same condition
- BAG3 p.Phe442Ser Uncertain significance ★ ⚠ same residue
- BAG3 p.Phe442= Likely benign ★ same residue
- BAG3 p.Glu322Ter Likely pathogenic ★★ same condition
- BAG3 p.Glu455Lys Pathogenic ★★ same condition
- BAG3 p.Pro209Leu 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-phe442fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown