BCL11B p.Pro271=
c.813G>C · rs1152783 · VCV1166611
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 5 submitters
gnomAD v4.1
Common
common (popmax 35.8%, amr) — too common for a highly-penetrant pathogenic allele
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 -1.4 | GERP -3.5 |
| Overall | ||
| CADD | 3.971 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
35.8%
Admixed American · 19,358/54,044 alleles
Filtering AF
35.4%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 35.2%
Overall
20.3%
318,453/1,571,932 alleles · common
exomes 287,303/1,419,906 · genomes 31,150/152,026 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 35.8% | 3 |
| East Asian | 31.7% | 3 |
| South Asian | 25.2% | 4 |
| Middle Eastern | 24.6% | 4 |
| Ashkenazi Jewishnot grpmax-eligible | 24.4% | 4 |
| Remaining individualsnot grpmax-eligible | 21.1% | 5 |
| European (non-Finnish) | 18.8% | 5 |
| African / African-American | 18.5% | 5 |
| Finnishnot grpmax-eligible | 17.8% | 6 |
| Amishnot grpmax-eligible | 3.52% | 28 |
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
- BCL11B
- Protein
- p.Pro271=
- Coding
- c.813G>C
- MANE Select
- NM_138576
- dbSNP
- rs1152783
- Type
- single nucleotide variant
- Location
- chr14:99176023 (GRCh38)
- Gene constraint
- LOEUF 0.462 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 51.76 · 6 PDB
Similar variants
- BCL11B p.Asn807Lys Pathogenic/Likely pathogenic ★★ ⚠ same type
- BCL11B p.Cys808Arg Likely pathogenic ★★ same type
- BCL11B p.Tyr824Ter Likely pathogenic ★★ same type
- BCL11B p.Ala152Val Uncertain significance ★★ ⚠ same type
- BCL11B p.Ala188Thr Uncertain significance ★★ ⚠ same type
- BCL11B p.Ala339Val Uncertain significance ★★ ⚠ same type
- BCL11B p.Ala424Asp Uncertain significance ★★ ⚠ same type
- BCL11B p.Ala579Thr 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/bcl11b-p-pro271 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown