BSN p.Pro18=
c.54C>G · rs1382496840 · VCV2653829
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 -3 | GERP -1.7 |
| Overall | ||
| CADD | 8.936 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- BSN
- Protein
- p.Pro18=
- Coding
- c.54C>G
- MANE Select
- NM_003458
- dbSNP
- rs1382496840
- Type
- single nucleotide variant
- Location
- chr3:49554656 (GRCh38)
- Gene constraint
- LOEUF 0.271 · pLI 1.00 (gnomAD)
- Residue 18
- the 'disordered' region
Similar variants
- BSN p.Ala1623Thr Uncertain significance ★★ ⚠ same type
- BSN p.Ala2329Val Uncertain significance ★★ ⚠ same type
- BSN p.Ala2475Pro Uncertain significance ★★ ⚠ same type
- BSN p.Arg1145Trp Uncertain significance ★★ ⚠ same type
- BSN p.Arg2221His Uncertain significance ★★ ⚠ same type
- BSN p.Arg3229Gln Uncertain significance ★★ same type
- BSN p.Arg976His Uncertain significance ★★ same type
- BSN p.His1842Arg Uncertain significance ★★ ⚠ same type
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-pro18 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown