Is WDR26 p.Pro745= (c.2235T>C) pathogenic?

WDR26 p.Pro745= (c.2235T>C) is classified Likely benign in WDR26 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-04-01). Rare (popmax 0.529%, eas); Associated with WDR26-related disorder.

What condition is associated with WDR26 p.Pro745= (c.2235T>C)?

WDR26 p.Pro745= (c.2235T>C) is associated with WDR26-related disorder (ClinVar).

How common is WDR26 p.Pro745= (c.2235T>C) in the general population?

WDR26 p.Pro745= (c.2235T>C) is rare (popmax 0.529%, eas) (gnomAD).

WDR26 p.Pro745=

c.2235T>C · rs142326612 · VCV3059746

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.529%, eas)

Conditions

WDR26-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.085	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 6.1	GERP 1.2, phastCons 1
Overall
CADD	11.82	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.529% East Asian · 233/44,018 alleles

Filtering AF 0.474% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.452%

Overall 0.0165% 256/1,552,826 alleles · rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.529%	189
Remaining individualsnot grpmax-eligible	0.0186%	5,379
South Asian	0.0106%	9,461
Admixed American	0.00339%	29,482
European (non-Finnish)	8.82e-05%	1,133,888

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: WDR26
Protein: p.Pro745=
Coding: c.2235T>C
MANE Select: NM_001379403
dbSNP: rs142326612
Type: single nucleotide variant
Location: chr1:224393853 (GRCh38)
Gene constraint: LOEUF 0.144 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 81.30 · 4 PDB

Full WDR26 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

WDR26-related disorder

Similar variants

WDR26 c.1865+4A>G Likely pathogenic ★ same condition
WDR26 p.Arg379Ter Pathogenic ★ same condition
WDR26 p.Gln402Ter Pathogenic ★ same condition
WDR26 p.Arg264Gln Conflicting classifications of pathogenicity ★ ⚠ same condition
WDR26 p.Arg399Gln Conflicting classifications of pathogenicity ★ ⚠ same condition
WDR26 p.Ser143Phe Uncertain significance ★ ⚠ same condition
WDR26 p.Thr710Ile Uncertain significance ★ ⚠ same condition
WDR26 p.Ser595Asn 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/wdr26-p-pro745 (accessed [today's date]).

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