Is BAG5 p.Pro111= (c.333A>G) pathogenic?

BAG5 p.Pro111= (c.333A>G) is classified Likely benign in BAG5 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-09-01). Very rare (popmax 0.00446%, eas).

How common is BAG5 p.Pro111= (c.333A>G) in the general population?

BAG5 p.Pro111= (c.333A>G) is very rare (popmax 0.00446%, eas) (gnomAD).

BAG5 p.Pro111=

c.333A>G · rs2507436855 · VCV2644590

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00446%, eas)

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 -5.3	GERP -3
Overall
CADD	3.724	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00446% East Asian · 2/44,886 alleles

Filtering AF 0.000739% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000276%

Overall 0.000205% 3/1,461,888 alleles · very rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.00446%	22,443
Admixed American	0.00167%	60,008

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: BAG5
Protein: p.Pro111=
Coding: c.333A>G
MANE Select: NM_001015048
dbSNP: rs2507436855
Type: single nucleotide variant
Location: chr14:103560832 (GRCh38)
Gene constraint: LOEUF 1.04 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 90.68 · 2 PDB
Residue 111: the bag 2 domain

Full BAG5 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

BAG5 p.Arg390Ter Likely pathogenic ★ same type
BAG5 c.-12C>T Uncertain significance ★ same type
BAG5 c.-28T>G Uncertain significance ★ same type
BAG5 c.-29+612C>T Uncertain significance ★ same type
BAG5 c.-29+617C>G Uncertain significance ★ same type
BAG5 c.-29+636A>C Uncertain significance ★ same type
BAG5 c.-29+654A>T Uncertain significance ★ same type
BAG5 c.-29+670C>T Uncertain significance ★ 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/bag5-p-pro111 (accessed [today's date]).

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