Is BSG p.Pro29= (c.87G>A) pathogenic?

BSG p.Pro29= (c.87G>A) is classified Likely benign in BSG (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-02-21). Rare (popmax 0.279%, mid); Associated with BSG-related disorder.

What condition is associated with BSG p.Pro29= (c.87G>A)?

BSG p.Pro29= (c.87G>A) is associated with BSG-related disorder (ClinVar).

How common is BSG p.Pro29= (c.87G>A) in the general population?

BSG p.Pro29= (c.87G>A) is rare (popmax 0.279%, mid) (gnomAD).

BSG p.Pro29=

c.87G>A · rs181004617 · VCV3045172

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.279%, mid)

Conditions

BSG-related disorder

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 -3.1	GERP -3.9
Overall
CADD	2.689	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.279% Middle Eastern · 15/5,386 alleles

Filtering AF 0.172% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.139%

Overall 0.0242% 346/1,427,192 alleles · rare

Ancestry group	Frequency	1 in
Middle Easterngrpmax	0.279%	359
Admixed American	0.16%	624
Remaining individualsnot grpmax-eligible	0.0491%	2,039
African / African-American	0.0302%	3,309
European (non-Finnish)	0.0204%	4,911
Ashkenazi Jewishnot grpmax-eligible	0.00442%	22,622
East Asian	0.00262%	38,144
Finnishnot grpmax-eligible	0.002%	49,884

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: BSG
Protein: p.Pro29=
Coding: c.87G>A
MANE Select: NM_001728
dbSNP: rs181004617
Type: single nucleotide variant
Location: chr19:577793 (GRCh38)
Gene constraint: LOEUF 1.254 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 86.51 · 18 PDB

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

Disease context

BSG-related disorder

Similar variants

BSG p.Arg380Cys Uncertain significance ★ ⚠ same condition
BSG c.1095-9G>A Benign same condition
BSG c.-89C>A Likely benign same condition
BSG p.Ala122= Likely benign same condition
BSG p.Ala225= Benign same condition
BSG p.Asp148= Likely benign same condition
BSG p.Asp181= Benign same condition
BSG p.Ile342= Likely benign 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/bsg-p-pro29 (accessed [today's date]).

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