BAG3 p.Val154fs
c.460del · VCV3337844
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 | predicted | premature termination codon in exon 2 of 4 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4.6 | GERP 2.1, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BAG3
- Protein
- p.Val154fs
- Coding
- c.460del
- MANE Select
- NM_004281
- Type
- Deletion
- Location
- chr10:119670129 (GRCh38)
- Gene constraint
- LOEUF 0.538 · pLI 0.92 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 57.98
- Residue 154
- the ww 2 domain; the 'disordered' region
Similar variants
- BAG3 p.Val154Leu Uncertain significance ★★ ⚠ same residue
- BAG3 p.Val154Ala Uncertain significance ★ ⚠ same residue
- BAG3 p.Val154Met Conflicting classifications of pathogenicity ★ ⚠ same residue
- BAG3 p.Glu360fs Likely pathogenic ★★ same type
- BAG3 p.Glu471fs Likely pathogenic ★★ same type
- BAG3 p.Gly25fs Pathogenic/Likely pathogenic ★★ same type
- BAG3 p.Leu423fs Pathogenic ★★ same type
- BAG3 p.Lys324fs Pathogenic/Likely pathogenic ★★ same type
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-val154fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown