SIN3B p.Pro728=
c.2184G>A · rs145391747 · VCV3044305
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.585%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Overall | ||
| CADD | 0.227 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.585%
African / African-American · 439/75,010 alleles
Filtering AF
0.54%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.522%
Overall
0.0374%
604/1,613,866 alleles · rare
exomes 343/1,461,588 · genomes 261/152,278 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.585% | 171 |
| Admixed American | 0.102% | 984 |
| Middle Eastern | 0.0836% | 1,196 |
| Remaining individualsnot grpmax-eligible | 0.0416% | 2,403 |
| South Asian | 0.0318% | 3,141 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00676% | 14,800 |
| European (non-Finnish) | 0.00339% | 29,499 |
| East Asian | 0.00223% | 44,874 |
| Finnishnot grpmax-eligible | 0.00156% | 63,930 |
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
- SIN3B
- Protein
- p.Pro728=
- Coding
- c.2184G>A
- MANE Select
- NM_001297595
- dbSNP
- rs145391747
- Type
- single nucleotide variant
- Location
- chr19:16869837 (GRCh38)
- Gene constraint
- LOEUF 0.245 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 69.07 · 4 PDB
- Residue 728
- the 'disordered' region
Similar variants
- SIN3B p.Ala534Thr Uncertain significance ★★ same type
- SIN3B p.Glu258Asp Uncertain significance ★★ ⚠ same type
- SIN3B p.His91Tyr Uncertain significance ★★ ⚠ same type
- SIN3B p.Pro281Ala Uncertain significance ★★ ⚠ same type
- SIN3B p.Val160Met Uncertain significance ★★ ⚠ same type
- SIN3B p.Val873Ile Uncertain significance ★★ ⚠ same type
- SIN3B c.1266+354G>A Benign ★★ same type
- SIN3B c.2954+6A>G Benign ★★ 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/sin3b-p-pro728 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown