Is BAG3 p.Arg480fs (c.1440_1450del) pathogenic?

BAG3 p.Arg480fs (c.14401450del) is classified Likely pathogenic in BAG3 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-10-18). Absent from gnomAD; Associated with Cardiovascular phenotype.

What condition is associated with BAG3 p.Arg480fs (c.1440_1450del)?

BAG3 p.Arg480fs (c.1440_1450del) is associated with Cardiovascular phenotype (ClinVar).

How common is BAG3 p.Arg480fs (c.1440_1450del) in the general population?

BAG3 p.Arg480fs (c.1440_1450del) is absent from gnomAD (gnomAD).

BAG3 p.Arg480fs

c.1440_1450del · rs2494024121 · VCV3223768

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

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 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 4.4	GERP 0.039, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: BAG3
Protein: p.Arg480fs
Coding: c.1440_1450del
MANE Select: NM_004281
dbSNP: rs2494024121
Type: Deletion
Location: chr10:119676993 (GRCh38)
Gene constraint: LOEUF 0.538 · pLI 0.92 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 57.98
Residue 480: the bag domain

Full BAG3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

BAG3 p.Arg480= Likely benign ★★ same residue
BAG3 p.Glu471fs Likely pathogenic ★★ same condition
BAG3 p.Leu423fs 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
BAG3 p.Ser190fs 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-arg480fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown