Is BAG3 p.Ala155= (c.465A>G) pathogenic?

BAG3 p.Ala155= (c.465A>G) is classified Conflicting classifications of pathogenicity in BAG3 (ClinVar, Conflicting submitters, 10 submitters; last evaluated 2026-06-01). Ultra-rare (popmax 0.0988%, mid); Associated with Cardiovascular phenotype.

What condition is associated with BAG3 p.Ala155= (c.465A>G)?

BAG3 p.Ala155= (c.465A>G) is associated with Cardiovascular phenotype, cardiomyopathy, myofibrillar myopathy 6 (ClinVar).

How common is BAG3 p.Ala155= (c.465A>G) in the general population?

BAG3 p.Ala155= (c.465A>G) is ultra-rare (popmax 0.0988%, mid) (gnomAD).

BAG3 p.Ala155=

c.465A>G · rs775151738 · VCV227186

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 10 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0988%, mid)

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -2.2	GERP -3.6
Overall
CADD	1.534	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0988% Middle Eastern · 6/6,074 alleles

Filtering AF 0.0429% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0293%

Overall 0.00354% 57/1,612,434 alleles · ultra-rare

Ancestry group	Frequency	1 in
Middle Easterngrpmax	0.0988%	1,012
African / African-American	0.0187%	5,352
Remaining individualsnot grpmax-eligible	0.0144%	6,936
Admixed American	0.00667%	14,995
European (non-Finnish)	0.00187%	53,606
Finnishnot grpmax-eligible	0.00158%	63,286
South Asian	0.0011%	91,064

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.Ala155=
Coding: c.465A>G
MANE Select: NM_004281
dbSNP: rs775151738
Type: single nucleotide variant
Location: chr10:119670135 (GRCh38)
Gene constraint: LOEUF 0.538 · pLI 0.92 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 57.98
Residue 155: a UniProt-annotated variant site (in); the 'disordered' region

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

Also linked: cardiomyopathy myofibrillar myopathy 6 dilated cardiomyopathy 1HH

Similar variants

BAG3 p.Ala155Thr Conflicting classifications of pathogenicity ★ ⚠ same residue
BAG3 p.Ala155Val Uncertain significance ★ ⚠ same residue
BAG3 p.Arg121Ter Pathogenic/Likely pathogenic ★★ same condition
BAG3 p.Arg123Ter Pathogenic/Likely pathogenic ★★ same condition
BAG3 p.Arg309Ter Pathogenic ★★ same condition
BAG3 p.Arg473Ter Pathogenic/Likely pathogenic ★★ same condition
BAG3 p.Arg90Ter Pathogenic ★★ same condition
BAG3 p.Gln132Ter 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-ala155 (accessed [today's date]).

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