Is BAP1 p.Thr273fs (c.793_817dup) pathogenic?

BAP1 p.Thr273fs (c.793817dup) is classified Pathogenic/Likely pathogenic in BAP1 (ClinVar, Multiple submitters, 3 submitters; last evaluated 2026-05-08). Absent from gnomAD; Associated with BAP1-related tumor predisposition syndrome.

What condition is associated with BAP1 p.Thr273fs (c.793_817dup)?

BAP1 p.Thr273fs (c.793_817dup) is associated with BAP1-related tumor predisposition syndrome (ClinVar).

How common is BAP1 p.Thr273fs (c.793_817dup) in the general population?

BAP1 p.Thr273fs (c.793_817dup) is absent from gnomAD (gnomAD).

How is BAP1-related tumor predisposition syndrome inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

BAP1 p.Thr273fs

c.793_817dup · rs2471341236 · VCV2679913

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

BAP1-related tumor predisposition syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a haploinsufficient gene (ClinGen); NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	GERP 1.9, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: BAP1
Protein: p.Thr273fs
Coding: c.793_817dup
MANE Select: NM_007212 · reported on NM_004656
dbSNP: rs2471341236
Type: Duplication
Location: chr3:52405878 (GRCh38)
Structure: AlphaFold pLDDT 78.27 · 28 PDB
Residue 273: an α-helix

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

Disease context

BAP1-related tumor predisposition syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For BAP1-related tumor predisposition syndrome (Orphanet):

Inheritance: Autosomal dominant
Onset: Adult

Similar variants

BAP1 p.Thr273= Benign/Likely benign ★★ same residue
BAP1 p.Arg146fs Pathogenic ★★ same condition
BAP1 p.Asn504fs Pathogenic ★★ same condition
BAP1 p.Cys320fs Pathogenic ★★ same condition
BAP1 p.Gln280fs Pathogenic ★★ same condition
BAP1 p.Glu198fs Pathogenic/Likely pathogenic ★★ same condition
BAP1 p.Glu454fs Pathogenic/Likely pathogenic ★★ same condition
BAP1 p.Glu566Ter 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-thr273fs (accessed [today's date]).

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