BRWD3 p.Pro871=
c.2613A>C · rs769833647 · VCV2889449
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.023%, mid)
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 -0.095 | GERP -0.97, phastCons 0.81 |
| Overall | ||
| CADD | 8.349 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.023%
Middle Eastern · 1/4,354 alleles
Filtering AF
0.00462%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00419%
Overall
0.00488%
59/1,209,712 alleles · ultra-rare
exomes 57/1,097,334 · genomes 2/112,378 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.023% | 4,354 |
| Remaining individualsnot grpmax-eligible | 0.00841% | 11,897 |
| European (non-Finnish) | 0.00592% | 16,881 |
| African / African-American | 0.00174% | 57,339 |
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
- BRWD3
- Protein
- p.Pro871=
- Coding
- c.2613A>C
- MANE Select
- NM_153252
- dbSNP
- rs769833647
- Type
- single nucleotide variant
- Location
- chrX:80704786 (GRCh38)
- Structure
- AlphaFold pLDDT 65.11
- Residue 871
- the 'disordered' region
Similar variants
- BRWD3 c.4006-1G>A Likely pathogenic ★★ same type
- BRWD3 p.Arg1240Ter Pathogenic/Likely pathogenic ★★ same type
- BRWD3 p.Arg1694Ter Pathogenic ★★ same type
- BRWD3 p.Arg190Ter Pathogenic ★★ same type
- BRWD3 p.Arg750Ter Pathogenic/Likely pathogenic ★★ same type
- BRWD3 p.Trp1138Ter Pathogenic/Likely pathogenic ★★ same type
- BRWD3 c.2232-3T>C Uncertain significance ★★ same type
- BRWD3 c.90+5G>A 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/brwd3-p-pro871 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown