BRD10 p.Pro321=
c.963A>G · rs149472002 · VCV2659058
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.05%, eas)
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 0.6 | GERP -0.72, phastCons 1 |
| Overall | ||
| CADD | 9.28 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.05%
East Asian · 472/44,872 alleles
Filtering AF
0.973%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.942%
Overall
0.73%
11,782/1,613,912 alleles · low-frequency
exomes 11,014/1,461,584 · genomes 768/152,328 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 1.05% | 95 |
| Ashkenazi Jewishnot grpmax-eligible | 0.892% | 112 |
| European (non-Finnish) | 0.805% | 124 |
| Remaining individualsnot grpmax-eligible | 0.771% | 130 |
| South Asian | 0.527% | 190 |
| Finnishnot grpmax-eligible | 0.492% | 203 |
| Middle Eastern | 0.297% | 337 |
| Admixed American | 0.297% | 337 |
| African / African-American | 0.103% | 975 |
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
- BRD10
- Protein
- p.Pro321=
- Coding
- c.963A>G
- MANE Select
- NM_001017969
- dbSNP
- rs149472002
- Type
- single nucleotide variant
- Location
- chr9:5969268 (GRCh38)
- Structure
- AlphaFold pLDDT 46.10
Similar variants
- BRD10 p.Pro1552= Benign ★★ same type
- BRD10 p.Val1306Leu Likely benign ★★ same type
- BRD10 p.Ala1032Pro Uncertain significance ★ ⚠ same type
- BRD10 p.Ala1150Thr Uncertain significance ★ ⚠ same type
- BRD10 p.Ala116Val Uncertain significance ★ ⚠ same type
- BRD10 p.Ala1182Gly Uncertain significance ★ ⚠ same type
- BRD10 p.Ala1225Gly Uncertain significance ★ ⚠ same type
- BRD10 p.Ala1256Val 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/brd10-p-pro321 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown