BSG p.Ser283=
c.849A>G · rs11551900 · VCV785595
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.39%, 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 -8.9 | GERP -3.4 |
| Overall | ||
| CADD | 0.113 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.39%
African / African-American · 1,045/75,056 alleles
Filtering AF
1.32%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.29%
Overall
0.0695%
1,121/1,612,754 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.39% | 72 |
| Remaining individualsnot grpmax-eligible | 0.0624% | 1,602 |
| Admixed American | 0.045% | 2,223 |
| Middle Eastern | 0.0165% | 6,062 |
| South Asian | 0.0011% | 91,090 |
| European (non-Finnish) | 0.000678% | 147,485 |
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
- BSG
- Protein
- p.Ser283=
- Coding
- c.849A>G
- MANE Select
- NM_001728
- dbSNP
- rs11551900
- Type
- single nucleotide variant
- Location
- chr19:581371 (GRCh38)
- Gene constraint
- LOEUF 1.254 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.51 · 18 PDB
- Residue 283
- a disulfide bond; a β-strand; the ig-like v-type domain
Similar variants
- BSG c.*238C>T Benign ★★ same type
- BSG p.Ala163Thr Uncertain significance ★ ⚠ same type
- BSG p.Ala225Pro Uncertain significance ★ ⚠ same type
- BSG p.Ala360Thr Uncertain significance ★ ⚠ same type
- BSG p.Ala4Gly Uncertain significance ★ ⚠ same type
- BSG p.Ala4Thr Uncertain significance ★ ⚠ same type
- BSG p.Arg282Gln Uncertain significance ★ ⚠ same type
- BSG p.Arg300Gln 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/bsg-p-ser283 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown