Is BAP1 p.Asn290Thr (c.869A>C) pathogenic?

BAP1 p.Asn290Thr (c.869A>C) is classified Likely benign in BAP1 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-12-09). AlphaMissense: likely benign (0.059); Absent from gnomAD v4.1; Associated with hereditary neoplastic syndrome.

What condition is associated with BAP1 p.Asn290Thr (c.869A>C)?

BAP1 p.Asn290Thr (c.869A>C) is associated with hereditary neoplastic syndrome (ClinVar).

How common is BAP1 p.Asn290Thr (c.869A>C) in the general population?

BAP1 p.Asn290Thr (c.869A>C) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about BAP1 p.Asn290Thr (c.869A>C)?

AlphaMissense predicts likely benign (score 0.059) — an in-silico prediction, not a clinical call.

BAP1 p.Asn290Thr

c.869A>C · VCV3477925

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.059 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

hereditary neoplastic syndrome

Computational evidence

Protein change
AlphaMissense	0.059	likely benign
REVEL	0.037	moderately benign-leaning
SaProt	LLR -5.82	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 2.8	GERP -1.6, phastCons 0.99
Overall
CADD	16.83	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.Asn290Thr
Coding: c.869A>C
MANE Select: NM_007212 · reported on NM_004656
Type: single nucleotide variant
Location: chr3:52405827 (GRCh38)
Structure: AlphaFold pLDDT 78.27 · 28 PDB
Residue 290: an α-helix

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

Disease context

hereditary neoplastic syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

BAP1 p.Asn290= Benign/Likely benign ★★ same residue
BAP1 p.Asn290Ser Benign/Likely benign ★★ same residue
BAP1 p.Asn290Lys Uncertain significance ★ ⚠ same residue
BAP1 c.1117-1G>A Likely pathogenic ★★ same condition
BAP1 c.122+1G>A Pathogenic ★★ same condition
BAP1 c.122+1G>T Pathogenic/Likely pathogenic ★★ same condition
BAP1 c.1251-1G>A Likely pathogenic ★★ same condition
BAP1 c.1251-2A>G Likely pathogenic ★★ 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-asn290thr (accessed [today's date]).

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