Is BRSK2 p.Val587= (c.1761C>G) pathogenic?

BRSK2 p.Val587= (c.1761C>G) is classified Likely benign in BRSK2 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2022-08-30). Absent from gnomAD v4.1; Associated with BRSK2-related disorder.

What condition is associated with BRSK2 p.Val587= (c.1761C>G)?

BRSK2 p.Val587= (c.1761C>G) is associated with BRSK2-related disorder (ClinVar).

How common is BRSK2 p.Val587= (c.1761C>G) in the general population?

BRSK2 p.Val587= (c.1761C>G) is absent from gnomAD v4.1 (gnomAD).

BRSK2 p.Val587=

c.1761C>G · rs1443449373 · VCV3054202

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

BRSK2-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.03	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 0.54	phastCons 1
Overall
CADD	3.439	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: BRSK2
Protein: p.Val587=
Coding: c.1761C>G
MANE Select: NM_001256627
dbSNP: rs1443449373
Type: single nucleotide variant
Location: chr11:1456440 (GRCh38)
Gene constraint: LOEUF 0.361 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 68.46

Full BRSK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

BRSK2-related disorder

Similar variants

BRSK2 p.Arg313Ter Pathogenic/Likely pathogenic ★★ same condition
BRSK2 p.Cys39Ter Pathogenic ★ same condition
BRSK2 c.91+21048C>T Uncertain significance ★ same condition
BRSK2 c.91+21210C>T Uncertain significance ★ same condition
BRSK2 c.92-5C>A Uncertain significance ★ same condition
BRSK2 c.*255C>T Uncertain significance ★ same condition
BRSK2 p.Ala697Val Uncertain significance ★ ⚠ same condition
BRSK2 p.Asp198Glu 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/brsk2-p-val587 (accessed [today's date]).

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