Is BAP1 p.Ser10Gly (c.28A>G) pathogenic?

BAP1 p.Ser10Gly (c.28A>G) is classified Likely pathogenic in BAP1 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-10-09). AlphaMissense: likely pathogenic (0.9768); Absent from gnomAD v4.1; Associated with Kury-Isidor syndrome.

What condition is associated with BAP1 p.Ser10Gly (c.28A>G)?

BAP1 p.Ser10Gly (c.28A>G) is associated with Kury-Isidor syndrome (ClinVar).

How common is BAP1 p.Ser10Gly (c.28A>G) in the general population?

BAP1 p.Ser10Gly (c.28A>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about BAP1 p.Ser10Gly (c.28A>G)?

AlphaMissense predicts likely pathogenic (score 0.9768) — an in-silico prediction, not a clinical call.

BAP1 p.Ser10Gly

c.28A>G · VCV3377067

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.9768 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

2/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

Kury-Isidor syndrome

Computational evidence

Protein change
AlphaMissense	0.9768	likely pathogenic ✓ concordant with ClinVar
REVEL	0.724	pathogenic-leaning
SaProt	LLR -9.65	tolerated
⇒ AlphaMissense and REVEL call this damaging; SaProt does not.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 7.6	GERP 1.6, phastCons 1
Overall
CADD	32.0	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

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: BAP1
Protein: p.Ser10Gly
Coding: c.28A>G
MANE Select: NM_007212 · reported on NM_004656
Type: single nucleotide variant
Location: chr3:52409851 (GRCh38)
Structure: AlphaFold pLDDT 78.27 · 28 PDB
Residue 10: the 'interaction with hip2' region

Full BAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Kury-Isidor syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

BAP1 p.Ser10= Benign/Likely benign ★★ same residue
BAP1 p.Ala92Val Pathogenic/Likely pathogenic ★★ same condition
BAP1 p.Asn229Lys Likely pathogenic ★★ same condition
BAP1 p.Cys91Ser Pathogenic/Likely pathogenic ★★ same condition
BAP1 p.Gln392Ter Pathogenic ★★ same condition
BAP1 p.Trp202Ter Pathogenic ★★ same condition
BAP1 p.Tyr646Ter Pathogenic ★★ same condition
BAP1 p.Ala379Val 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/bap1-p-ser10gly (accessed [today's date]).

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