Is BSG p.Asp148= (c.444C>T) pathogenic?

BSG p.Asp148= (c.444C>T) is classified Likely benign in BSG (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-04-09). Very rare (popmax 0.000509%, nfe); Associated with BSG-related disorder.

What condition is associated with BSG p.Asp148= (c.444C>T)?

BSG p.Asp148= (c.444C>T) is associated with BSG-related disorder (ClinVar).

How common is BSG p.Asp148= (c.444C>T) in the general population?

BSG p.Asp148= (c.444C>T) is very rare (popmax 0.000509%, nfe) (gnomAD).

BSG p.Asp148=

c.444C>T · rs145196054 · VCV3047114

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.000509%, 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 -9.4	GERP -2.4
Overall
CADD	0.084	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.000509% European (non-Finnish) · 6/1,179,926 alleles

Filtering AF 0.000183% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00012%

Overall 0.000372% 6/1,612,714 alleles · very rare exomes 6/1,460,346 · genomes 0/152,368 · joint denominator

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.Asp148=
Coding: c.444C>T
MANE Select: NM_001728
dbSNP: rs145196054
Type: single nucleotide variant
Location: chr19:579528 (GRCh38)
Gene constraint: LOEUF 1.254 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 86.51 · 18 PDB
Residue 148: a β-strand; 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.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-asp148 (accessed [today's date]).

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