Is BSG p.Ala122= (c.366G>A) pathogenic?

BSG p.Ala122= (c.366G>A) is classified Likely benign in BSG (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-05-23). Ultra-rare (popmax 0.0752%, nfe); Associated with BSG-related disorder.

What condition is associated with BSG p.Ala122= (c.366G>A)?

BSG p.Ala122= (c.366G>A) is associated with BSG-related disorder (ClinVar).

How common is BSG p.Ala122= (c.366G>A) in the general population?

BSG p.Ala122= (c.366G>A) is ultra-rare (popmax 0.0752%, nfe) (gnomAD).

BSG p.Ala122=

c.366G>A · rs148189655 · VCV3039551

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0752%, nfe)

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 -2.6	GERP -3.9
Overall
CADD	7.72	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0752% European (non-Finnish) · 885/1,176,690 alleles

Filtering AF 0.0711% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0694%

Overall 0.0577% 927/1,607,144 alleles · ultra-rare

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.0752%	1,330
Remaining individualsnot grpmax-eligible	0.0354%	2,827
Finnishnot grpmax-eligible	0.0129%	7,751
African / African-American	0.00935%	10,691
East Asian	0.00447%	22,359
Ashkenazi Jewishnot grpmax-eligible	0.00339%	29,508
Admixed American	0.00168%	59,612
South Asian	0.0011%	90,598

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.Ala122=
Coding: c.366G>A
MANE Select: NM_001728
dbSNP: rs148189655
Type: single nucleotide variant
Location: chr19:578072 (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.Ala225= Benign same condition
BSG p.Asp148= Likely benign same condition
BSG p.Asp181= Benign same condition
BSG p.Ile342= Likely benign same condition
BSG p.Leu240= 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-ala122 (accessed [today's date]).

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