Is BSN p.Pro3045= (c.9135C>G) pathogenic?

BSN p.Pro3045= (c.9135C>G) is classified Likely benign in BSN (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-03-26). Ultra-rare (popmax 0.0338%, nfe); Associated with BSN-related disorder.

What condition is associated with BSN p.Pro3045= (c.9135C>G)?

BSN p.Pro3045= (c.9135C>G) is associated with BSN-related disorder (ClinVar).

How common is BSN p.Pro3045= (c.9135C>G) in the general population?

BSN p.Pro3045= (c.9135C>G) is ultra-rare (popmax 0.0338%, nfe) (gnomAD).

BSN p.Pro3045=

c.9135C>G · rs373255318 · VCV3035566

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0338%, nfe)

Conditions

BSN-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	GERP -3.8
Overall
CADD	0.697	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0338% European (non-Finnish) · 399/1,179,980 alleles

Filtering AF 0.031% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0299%

Overall 0.0265% 427/1,611,722 alleles · ultra-rare

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.0338%	2,957
Admixed American	0.02%	5,002
Remaining individualsnot grpmax-eligible	0.0192%	5,207
Ashkenazi Jewishnot grpmax-eligible	0.00338%	29,604
African / African-American	0.00267%	37,517
South Asian	0.0011%	91,080

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.Pro3045=
Coding: c.9135C>G
MANE Select: NM_003458
dbSNP: rs373255318
Type: single nucleotide variant
Location: chr3:49660980 (GRCh38)
Gene constraint: LOEUF 0.271 · pLI 1.00 (gnomAD)
Residue 3045: the 'interaction with dao' region; the 'disordered' region

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

Disease context

BSN-related disorder

Similar variants

BSN p.Pro3045Arg Uncertain significance ★ ⚠ same residue
BSN p.Arg1145Trp Uncertain significance ★★ ⚠ same condition
BSN p.Leu2466Ile Uncertain significance ★★ ⚠ same condition
BSN p.Pro2732Arg 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

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-pro3045 (accessed [today's date]).

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