Is BSG p.Ser194= (c.582C>G) pathogenic?

BSG p.Ser194= (c.582C>G) is classified Benign in BSG (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-10-31). Common (popmax 26.7%, sas) — too common for a highly-penetrant pathogenic allele; Associated with BSG-related disorder.

What condition is associated with BSG p.Ser194= (c.582C>G)?

BSG p.Ser194= (c.582C>G) is associated with BSG-related disorder (ClinVar).

BSG p.Ser194=

Q: How common is BSG p.Ser194= (c.582C>G) in the general population?

BSG p.Ser194= (c.582C>G) is common (popmax 26.7%, sas) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.582C>G · rs2229664 · VCV3059477

Benign No assertion criteria

Classification

Benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Common

common (popmax 26.7%, sas) — too common for a highly-penetrant pathogenic allele

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 -4.1	GERP -2.4
Overall
CADD	0.112	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 26.7% South Asian · 24,277/91,054 alleles

Filtering AF 26.4% ClinGen BA1/BS1 input FAF95, joint · FAF99 26.3%

Overall 11.2% 180,933/1,610,302 alleles · common

Ancestry group	Frequency	1 in
South Asiangrpmax	26.7%	4
Amishnot grpmax-eligible	21.6%	5
Middle Eastern	19.3%	5
East Asian	19%	5
African / African-American	18.3%	5
Finnishnot grpmax-eligible	16.6%	6
Ashkenazi Jewishnot grpmax-eligible	14.6%	7
Remaining individualsnot grpmax-eligible	12.9%	8
Admixed American	9.29%	11
European (non-Finnish)	8.9%	11

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.Ser194=
Coding: c.582C>G
MANE Select: NM_001728
dbSNP: rs2229664
Type: single nucleotide variant
Location: chr19:580388 (GRCh38)
Gene constraint: LOEUF 1.254 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 86.51 · 18 PDB
Residue 194: a disulfide bond; an α-helix; the ig-like c2-type domain

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-ser194 (accessed [today's date]).

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