BRWD3 p.Asp385=
c.1155T>C · VCV3620276
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00353%, sas)
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 3.5 | GERP 1.9, phastCons 1 |
| Overall | ||
| CADD | 10.39 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00353%
South Asian · 2/56,596 alleles
Filtering AF
0.000586%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000219%
Overall
0.000333%
4/1,199,805 alleles · very rare
exomes 3/1,088,309 · genomes 1/111,496 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.00353% | 28,298 |
| Remaining individualsnot grpmax-eligible | 0.00212% | 47,236 |
| European (non-Finnish) | 0.000113% | 886,297 |
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.Asp385=
- Coding
- c.1155T>C
- MANE Select
- NM_153252
- Type
- single nucleotide variant
- Location
- chrX:80729993 (GRCh38)
- Structure
- AlphaFold pLDDT 65.11
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-asp385 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown