Is BAZ2B p.Pro775fs (c.2324del) pathogenic?

BAZ2B p.Pro775fs (c.2324del) is classified Uncertain significance in BAZ2B (ClinVar, Single submitter, 1 submitter; last evaluated 2023-12-07). Absent from gnomAD.

How common is BAZ2B p.Pro775fs (c.2324del) in the general population?

BAZ2B p.Pro775fs (c.2324del) is absent from gnomAD (gnomAD).

BAZ2B p.Pro775fs

c.2324del · rs2546784032 · VCV3252370

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 LoF-intolerant gene
NMD	predicted	premature termination codon in exon 12 of 37
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.15	GERP 0.5, phastCons 0.99

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: BAZ2B
Protein: p.Pro775fs
Coding: c.2324del
MANE Select: NM_013450
dbSNP: rs2546784032
Type: Deletion
Location: chr2:159428351 (GRCh38)
Gene constraint: LOEUF 0.386 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
Structure: AlphaFold pLDDT 55.23 · 265 PDB
Residue 775: the mbd domain

Full BAZ2B gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

BAZ2B p.His479fs Pathogenic ★ same type
BAZ2B p.Ile938fs Likely pathogenic ★ same type
BAZ2B p.Val454fs Likely pathogenic ★ same type
BAZ2B p.Arg738_Val739insTer Uncertain significance ★ same type
BAZ2B p.Lys1488fs Uncertain significance ★ same type
BAZ2B p.Lys948fs Uncertain significance ★ same type
BAZ2B c.2195-5del Likely benign same type
BAZ2B c.697-10_697-8del Likely benign same type

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/baz2b-p-pro775fs (accessed [today's date]).

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