Is BAZ2B p.Val1783= (c.5349G>A) pathogenic?

BAZ2B p.Val1783= (c.5349G>A) is classified Likely benign in BAZ2B (ClinVar, No assertion criteria, 1 submitter; last evaluated 2022-01-18). Absent from gnomAD v4.1; Associated with BAZ2B-related disorder.

What condition is associated with BAZ2B p.Val1783= (c.5349G>A)?

BAZ2B p.Val1783= (c.5349G>A) is associated with BAZ2B-related disorder (ClinVar).

How common is BAZ2B p.Val1783= (c.5349G>A) in the general population?

BAZ2B p.Val1783= (c.5349G>A) is absent from gnomAD v4.1 (gnomAD).

BAZ2B p.Val1783=

c.5349G>A · rs2068094640 · VCV3029722

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

BAZ2B-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 0.61	GERP 0.12, phastCons 1
Overall
CADD	7.628	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: BAZ2B
Protein: p.Val1783=
Coding: c.5349G>A
MANE Select: NM_013450
dbSNP: rs2068094640
Type: single nucleotide variant
Location: chr2:159347591 (GRCh38)
Gene constraint: LOEUF 0.386 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
Structure: AlphaFold pLDDT 55.23 · 265 PDB

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

Disease context

BAZ2B-related disorder

Similar variants

BAZ2B p.Val1783Ala Uncertain significance ★ ⚠ same residue
BAZ2B p.Met1Thr Pathogenic/Likely pathogenic ★★ same condition
BAZ2B p.Lys1761Asn Uncertain significance ★★ ⚠ same condition
BAZ2B c.5797-1G>C Likely pathogenic ★ same condition
BAZ2B p.Glu1854Ter Likely pathogenic ★ same condition
BAZ2B p.Leu718Phe Likely pathogenic ★ ⚠ same condition
BAZ2B c.2255+10A>G Uncertain significance ★ same condition
BAZ2B c.2466+2T>G 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/baz2b-p-val1783 (accessed [today's date]).

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