BAG3 p.Pro163fs
c.488del · rs1847128695 · VCV1453625
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 2.3 | GERP -0.84, phastCons 1 |
| Overall | ||
| CADD | 27.2 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Finnishnot grpmax-eligible | 0.00161% | 62,154 |
| African / African-Americangrpmax | 0.00133% | 74,928 |
Finnish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.
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
- BAG3
- Protein
- p.Pro163fs
- Coding
- c.488del
- MANE Select
- NM_004281
- dbSNP
- rs1847128695
- Type
- Deletion
- Location
- chr10:119670154 (GRCh38)
- Gene constraint
- LOEUF 0.538 · pLI 0.92 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 57.98
- Residue 163
- the 'disordered' region
Disease context
myofibrillar myopathy 6 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: dilated cardiomyopathy 1HH
For BAG3-related myofibrillar myopathy (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Adolescent, Childhood
Similar variants
- BAG3 p.Pro163Ser Conflicting classifications of pathogenicity ★ ⚠ same residue
- BAG3 p.Glu360fs Likely pathogenic ★★ same condition
- BAG3 p.Glu471fs Likely pathogenic ★★ same condition
- BAG3 p.Gly25fs Pathogenic/Likely pathogenic ★★ same condition
- BAG3 p.Leu423fs Pathogenic ★★ same condition
- BAG3 p.Lys324fs Pathogenic/Likely pathogenic ★★ same condition
- BAG3 p.Met10fs Pathogenic ★★ same condition
- BAG3 p.Pro356fs 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-pro163fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown