BCL7B p.Asp99=
c.297C>T · VCV4084059
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00667%, amr)
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 -0.75 | GERP -3.4 |
| Overall | ||
| CADD | 6.394 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00667%
Admixed American · 4/59,938 alleles
Filtering AF
0.00226%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00135%
Overall
0.00143%
23/1,613,876 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00667% | 14,985 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,622 |
| African / African-American | 0.00267% | 37,450 |
| European (non-Finnish) | 0.0011% | 90,770 |
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
- BCL7B
- Protein
- p.Asp99=
- Coding
- c.297C>T
- MANE Select
- NM_001707
- Type
- single nucleotide variant
- Location
- chr7:73540021 (GRCh38)
- Gene constraint
- LOEUF 0.867 · pLI 0.02 (gnomAD)
- Structure
- AlphaFold pLDDT 63.91 · 3 PDB
- Residue 99
- the 'disordered' region
Similar variants
- BCL7B p.Ala155Gly Uncertain significance ★ ⚠ same type
- BCL7B p.Arg130Cys Uncertain significance ★ ⚠ same type
- BCL7B p.Arg187Pro Uncertain significance ★ ⚠ same type
- BCL7B p.His125Leu Uncertain significance ★ ⚠ same type
- BCL7B p.His125Pro Uncertain significance ★ ⚠ same type
- BCL7B p.Leu83Pro Uncertain significance ★ ⚠ same type
- BCL7B p.Phe73Leu Uncertain significance ★ ⚠ same type
- BCL7B p.Pro115Leu 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/bcl7b-p-asp99 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown