Is BSN p.Pro2732Arg (c.8195C>G) pathogenic?

BSN p.Pro2732Arg (c.8195C>G) is classified Uncertain significance in BSN (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-10-18). AlphaMissense: likely benign (0.1185); Ultra-rare (popmax 0.0526%, amr); Associated with BSN related epilepsy.

What condition is associated with BSN p.Pro2732Arg (c.8195C>G)?

BSN p.Pro2732Arg (c.8195C>G) is associated with BSN related epilepsy (ClinVar).

How common is BSN p.Pro2732Arg (c.8195C>G) in the general population?

BSN p.Pro2732Arg (c.8195C>G) is ultra-rare (popmax 0.0526%, amr) (gnomAD).

What do computational predictors say about BSN p.Pro2732Arg (c.8195C>G)?

AlphaMissense predicts likely benign (score 0.1185) — an in-silico prediction, not a clinical call.

BSN p.Pro2732Arg

c.8195C>G · rs201556520 · VCV3135294

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

AlphaMissense

likely benign

0.1185 · ACMG-weighted

gnomAD v4.1

Rare

ultra-rare (popmax 0.0526%, amr)

Conditions

BSN related epilepsy

Computational evidence

Protein change
AlphaMissense	0.1185	likely benign
REVEL	0.324	indeterminate
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 4.9	GERP 1.5, phastCons 0.59
Regional constraint	o/e 0.88	unconstrained · MANE · 12 kb · p 3.9e-13 · regional, not allelic
Overall
CADD	18.88	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0526% Admixed American · 28/53,282 alleles

Filtering AF 0.0399% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0386%

Overall 0.0345% 535/1,548,974 alleles · ultra-rare

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.0526%	1,903
European (non-Finnish)	0.043%	2,324
Remaining individualsnot grpmax-eligible	0.0201%	4,968
African / African-American	0.00273%	36,643

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: BSN
Protein: p.Pro2732Arg
Coding: c.8195C>G
MANE Select: NM_003458
dbSNP: rs201556520
Type: single nucleotide variant
Location: chr3:49657751 (GRCh38)
Gene constraint: LOEUF 0.271 · pLI 1.00 (gnomAD)
Residue 2732: the 'interaction with dao' region

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

Disease context

BSN related epilepsy

Similar variants

BSN p.Arg1145Trp Uncertain significance ★★ ⚠ same condition
BSN p.Leu2466Ile Uncertain significance ★★ ⚠ same condition
BSN p.Gln1776Ter Likely pathogenic ★ same condition
BSN p.Gln3155Ter Likely pathogenic ★ same condition
BSN p.Gln875Ter Pathogenic ★ same condition
BSN p.Arg1066Cys Uncertain significance ★ ⚠ same condition
BSN p.Arg110Ter Uncertain significance ★ same condition
BSN p.Arg1335Ter Conflicting classifications of pathogenicity ★ ⚠ 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/bsn-p-pro2732arg (accessed [today's date]).

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