CGB2 p.Ser156=
c.468A>G · rs766526327 · VCV2650231
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.449%, 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 0.53 | phastCons 0.001 |
| Overall | ||
| CADD | 2.365 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.449%
African / African-American · 332/73,912 alleles
Filtering AF
0.409%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.394%
Overall
0.0622%
1,001/1,610,132 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.449% | 223 |
| Middle Eastern | 0.246% | 407 |
| Remaining individualsnot grpmax-eligible | 0.098% | 1,021 |
| East Asian | 0.0736% | 1,359 |
| South Asian | 0.0616% | 1,623 |
| Admixed American | 0.0517% | 1,933 |
| European (non-Finnish) | 0.0382% | 2,615 |
| Finnishnot grpmax-eligible | 0.0375% | 2,666 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00676% | 14,794 |
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
- CGB2
- Protein
- p.Ser156=
- Coding
- c.468A>G
- MANE Select
- NM_033378
- dbSNP
- rs766526327
- Type
- single nucleotide variant
- Location
- chr19:49033197 (GRCh38)
- Gene constraint
- LOEUF 1.73 · pLI 0.03 (gnomAD)
- Structure
- AlphaFold pLDDT 78.22
- Residue 156
- the 'disordered' region
Similar variants
- CGB2 p.Ala135Asp Benign ★★ same type
- CGB2 p.Ala141Gly Uncertain significance ★ ⚠ same type
- CGB2 p.Arg113Cys Uncertain significance ★ ⚠ same type
- CGB2 p.Arg24Gln Uncertain significance ★ ⚠ same type
- CGB2 p.Arg26Gln Uncertain significance ★ ⚠ same type
- CGB2 p.Arg26Trp Uncertain significance ★ ⚠ same type
- CGB2 p.Arg78Gly Uncertain significance ★ ⚠ same type
- CGB2 p.Arg81His 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/cgb2-p-ser156 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown