Is DNAJB2 p.Asp210Gly (c.629A>G) pathogenic?

DNAJB2 p.Asp210Gly (c.629A>G) is classified Uncertain significance in DNAJB2 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-06-08). AlphaMissense: likely pathogenic (0.8621); Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with DNAJB2 p.Asp210Gly (c.629A>G)?

DNAJB2 p.Asp210Gly (c.629A>G) is associated with Inborn genetic diseases (ClinVar).

How common is DNAJB2 p.Asp210Gly (c.629A>G) in the general population?

DNAJB2 p.Asp210Gly (c.629A>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about DNAJB2 p.Asp210Gly (c.629A>G)?

AlphaMissense predicts likely pathogenic (score 0.8621) — an in-silico prediction, not a clinical call.

DNAJB2 p.Asp210Gly

c.629A>G · rs1237929873 · VCV1752682

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.8621 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

2/2 damaging

AlphaMissense, SaProt · REVEL no call

Conditions

Inborn genetic diseases

Computational evidence

Protein change
AlphaMissense	0.8621	likely pathogenic
REVEL	0.43	indeterminate
SaProt	LLR -14.17	damaging
⇒ AlphaMissense and SaProt both call this damaging; REVEL makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 11	GERP 2, phastCons 1
Regional constraint	o/e 0.85	unconstrained · MANE · 5,150 bp · p 0.0024 · regional, not allelic
Overall
CADD	25.3	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean damaging — a triage signal, not a reclassification

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: DNAJB2
Protein: p.Asp210Gly
Coding: c.629A>G
MANE Select: NM_006736
dbSNP: rs1237929873
Type: single nucleotide variant
Location: chr2:219284641 (GRCh38)
Gene constraint: LOEUF 0.836 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 68.73 · 1 PDB
Residue 210: the uim 1 domain

Full DNAJB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DNAJB2 p.Arg178His Uncertain significance ★★ ⚠ same condition
DNAJB2 p.Arg191Trp Uncertain significance ★★ ⚠ same condition
DNAJB2 p.Asp248Asn Uncertain significance ★★ ⚠ same condition
DNAJB2 p.Asp66Asn Uncertain significance ★★ ⚠ same condition
DNAJB2 p.Gln224Pro Uncertain significance ★★ ⚠ same condition
DNAJB2 p.Pro225Leu Uncertain significance ★★ ⚠ same condition
DNAJB2 p.Ser152Cys Uncertain significance ★★ ⚠ same condition
DNAJB2 p.Ser170Phe 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/dnajb2-p-asp210gly (accessed [today's date]).

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