BSN p.Asp1815=
c.5445C>T · rs138782538 · VCV757405
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.147%, afr)
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 -8.3 | GERP -4.8 |
| Overall | ||
| CADD | 0.411 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.147%
African / African-American · 110/75,070 alleles
Filtering AF
0.124%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.116%
Overall
0.00936%
151/1,613,314 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.147% | 682 |
| Middle Eastern | 0.0495% | 2,020 |
| Admixed American | 0.02% | 5,002 |
| Remaining individualsnot grpmax-eligible | 0.008% | 12,499 |
| South Asian | 0.0022% | 45,541 |
| European (non-Finnish) | 0.00161% | 62,104 |
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.Asp1815=
- Coding
- c.5445C>T
- MANE Select
- NM_003458
- dbSNP
- rs138782538
- Type
- single nucleotide variant
- Location
- chr3:49655001 (GRCh38)
- Gene constraint
- LOEUF 0.271 · pLI 1.00 (gnomAD)
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-asp1815 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown