Is BAG3 p.Ser194fs (c.580del) pathogenic?

BAG3 p.Ser194fs (c.580del) is classified Likely pathogenic in BAG3 (ClinVar, Single submitter, 1 submitter; last evaluated 2017-03-31). Absent from gnomAD.

How common is BAG3 p.Ser194fs (c.580del) in the general population?

BAG3 p.Ser194fs (c.580del) is absent from gnomAD (gnomAD).

BAG3 p.Ser194fs

c.580del · rs1064795700 · VCV422311

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

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 3 of 4
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 3.5	GERP 2.4, 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.Ser194fs
Coding: c.580del
MANE Select: NM_004281
dbSNP: rs1064795700
Type: Deletion
Location: chr10:119672327 (GRCh38)
Gene constraint: LOEUF 0.538 · pLI 0.92 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 57.98
Residue 194: the 'disordered' region

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

Similar variants

BAG3 p.Ser194Gly Uncertain significance ★★ ⚠ same residue
BAG3 p.Ser194Arg Uncertain significance ★ ⚠ same residue
BAG3 p.Ser194= Likely benign ★ 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-ser194fs (accessed [today's date]).

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