BRD2 p.Tyr134=
c.402T>C · rs76146382 · VCV770361
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 3.07%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.196 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -1.1 | GERP -0.42, phastCons 0.002 |
| Overall | ||
| CADD | 5.127 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.07%
South Asian · 2,792/91,066 alleles
Filtering AF
2.97%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.93%
Overall
0.332%
5,357/1,612,534 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 3.07% | 33 |
| East Asian | 2.21% | 45 |
| Middle Eastern | 1.5% | 67 |
| Remaining individualsnot grpmax-eligible | 0.474% | 211 |
| Ashkenazi Jewishnot grpmax-eligible | 0.294% | 340 |
| Admixed American | 0.137% | 732 |
| European (non-Finnish) | 0.0811% | 1,233 |
| African / African-American | 0.064% | 1,563 |
| Finnishnot grpmax-eligible | 0.0175% | 5,722 |
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
- BRD2
- Protein
- p.Tyr134=
- Coding
- c.402T>C
- MANE Select
- NM_005104
- dbSNP
- rs76146382
- Type
- single nucleotide variant
- Location
- chr6:32975452 (GRCh38)
- Gene constraint
- LOEUF 0.28 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 65.70 · 169 PDB
- Residue 134
- the bromo 1 domain
Similar variants
- BRD2 p.Pro12Leu Uncertain significance ★★ ⚠ same type
- BRD2 p.Ala766Thr Benign/Likely benign ★★ same type
- BRD2 p.Gln533= Likely benign ★★ same type
- BRD2 p.Leu383= Likely benign ★★ same type
- BRD2 p.Ser397= Benign/Likely benign ★★ same type
- BRD2 p.Val465= Likely benign ★★ same type
- BRD2 p.Ala263Val Uncertain significance ★ ⚠ same type
- BRD2 p.Ala295Pro 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/brd2-p-tyr134 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown