BCL6 p.Ser694=
c.2082A>G · rs146998695 · VCV729093
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.609%, 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 -9.7 | GERP -3.6 |
| Overall | ||
| CADD | 0.237 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.609%
African / African-American · 457/75,040 alleles
Filtering AF
0.563%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.545%
Overall
0.0327%
528/1,613,794 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.609% | 164 |
| Admixed American | 0.075% | 1,333 |
| Middle Eastern | 0.0341% | 2,930 |
| Remaining individualsnot grpmax-eligible | 0.0336% | 2,975 |
| South Asian | 0.0011% | 91,034 |
| European (non-Finnish) | 0.000169% | 589,981 |
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
- BCL6
- Protein
- p.Ser694=
- Coding
- c.2082A>G
- MANE Select
- NM_001706
- dbSNP
- rs146998695
- Type
- single nucleotide variant
- Location
- chr3:187722497 (GRCh38)
- Gene constraint
- LOEUF 0.221 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 52.89 · 222 PDB
Similar variants
- BCL6 c.1356-3T>C Likely benign ★★ same type
- BCL6 c.161+8A>T Benign ★★ same type
- BCL6 c.1840-7C>T Likely benign ★★ same type
- BCL6 p.Pro245= Likely benign ★★ same type
- BCL6 p.Ser209= Benign ★★ same type
- BCL6 p.Thr48= Benign ★★ same type
- BCL6 p.Ala107Thr Uncertain significance ★ ⚠ same type
- BCL6 p.Ala291Thr 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/bcl6-p-ser694 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown