BAG3 p.Val295fs
c.884_894del · VCV3984747
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Cardiovascular phenotype
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 within the last 50 nt of the penultimate exon (3 of 4, 30 nt from its 3' end) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.7 | GERP 0.25, phastCons 0.71 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BAG3
- Protein
- p.Val295fs
- Coding
- c.884_894del
- MANE Select
- NM_004281
- Type
- Deletion
- Location
- chr10:119672626 (GRCh38)
- Gene constraint
- LOEUF 0.538 · pLI 0.92 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 57.98
- Residue 295
- the 'disordered' region
Similar variants
- BAG3 p.Glu471fs Likely pathogenic ★★ same condition
- BAG3 p.Leu423fs Pathogenic ★★ same condition
- BAG3 p.Val295= Likely benign ★★ same residue
- BAG3 p.Arg480fs Likely pathogenic ★ same condition
- BAG3 p.Arg75fs Pathogenic ★ same condition
- BAG3 p.Glu345fs Pathogenic ★ same condition
- BAG3 p.Glu394fs Pathogenic ★ same condition
- BAG3 p.Glu426fs 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-val295fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown