Is BRWD3 p.Pro587= (c.1761A>G) pathogenic?

BRWD3 p.Pro587= (c.1761A>G) is classified Likely benign in BRWD3 (ClinVar, Single submitter, 1 submitter; last evaluated 2017-05-11). Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with BRWD3 p.Pro587= (c.1761A>G)?

BRWD3 p.Pro587= (c.1761A>G) is associated with Inborn genetic diseases (ClinVar).

How common is BRWD3 p.Pro587= (c.1761A>G) in the general population?

BRWD3 p.Pro587= (c.1761A>G) is absent from gnomAD v4.1 (gnomAD).

BRWD3 p.Pro587=

c.1761A>G · rs1569261058 · VCV589648

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

Inborn genetic diseases

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 -1.7	GERP -3.8
Overall
CADD	6.774	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: BRWD3
Protein: p.Pro587=
Coding: c.1761A>G
MANE Select: NM_153252
dbSNP: rs1569261058
Type: single nucleotide variant
Location: chrX:80722677 (GRCh38)
Structure: AlphaFold pLDDT 65.11

Full BRWD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

BRWD3 c.2232-3T>C Uncertain significance ★★ same condition
BRWD3 p.Ala123Val Uncertain significance ★★ ⚠ same condition
BRWD3 p.Ala835Thr Uncertain significance ★★ ⚠ same condition
BRWD3 p.Arg1149Trp Uncertain significance ★★ ⚠ same condition
BRWD3 p.Arg1443Thr Uncertain significance ★★ ⚠ same condition
BRWD3 p.Arg1447Gln Uncertain significance ★★ ⚠ same condition
BRWD3 p.Arg1449Gly Uncertain significance ★★ ⚠ same condition
BRWD3 p.Arg1652Thr Uncertain significance ★★ ⚠ same condition

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-pro587 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown