Is BGN p.Ser77= (c.231C>T) pathogenic?

BGN p.Ser77= (c.231C>T) is classified Likely benign in BGN (ClinVar, Multiple submitters, 3 submitters; last evaluated 2025-11-24). Ultra-rare (popmax 0.0131%, amr); Associated with Cardiovascular phenotype.

What condition is associated with BGN p.Ser77= (c.231C>T)?

BGN p.Ser77= (c.231C>T) is associated with Cardiovascular phenotype (ClinVar).

How common is BGN p.Ser77= (c.231C>T) in the general population?

BGN p.Ser77= (c.231C>T) is ultra-rare (popmax 0.0131%, amr) (gnomAD).

BGN p.Ser77=

c.231C>T · rs141785227 · VCV1628425

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0131%, amr)

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP -5.4	GERP -3.8
Overall
CADD	1.549	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0131% Admixed American · 6/45,819 alleles

Filtering AF 0.00569% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00405%

Overall 0.0015% 18/1,200,995 alleles · ultra-rare exomes 12/1,088,464 · genomes 6/112,531 · joint denominator

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.0131%	7,637
African / African-American	0.0122%	8,180
Finnishnot grpmax-eligible	0.00472%	21,175
South Asian	0.00356%	28,066
European (non-Finnish)	0.000112%	891,631

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: BGN
Protein: p.Ser77=
Coding: c.231C>T
MANE Select: NM_001711
dbSNP: rs141785227
Type: single nucleotide variant
Location: chrX:153504862 (GRCh38)
Structure: AlphaFold pLDDT 85.72

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

Disease context

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

BGN c.909+4A>G Uncertain significance ★★ same condition
BGN p.Ala330Asp Uncertain significance ★★ ⚠ same condition
BGN p.Ala330Pro Uncertain significance ★★ ⚠ same condition
BGN p.Ala41Ser Uncertain significance ★★ ⚠ same condition
BGN p.Ala44Thr Uncertain significance ★★ ⚠ same condition
BGN p.Arg106His Uncertain significance ★★ ⚠ same condition
BGN p.Arg170Cys Uncertain significance ★★ ⚠ same condition
BGN p.Arg170His Uncertain significance ★★ ⚠ 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/bgn-p-ser77 (accessed [today's date]).

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