Is DNAJC14 p.Asp182Tyr (c.544G>T) pathogenic?

DNAJC14 p.Asp182Tyr (c.544G>T) is classified Uncertain significance in DNAJC14 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-03-15). AlphaMissense: likely benign (0.1694); Absent from gnomAD v4.1.

How common is DNAJC14 p.Asp182Tyr (c.544G>T) in the general population?

DNAJC14 p.Asp182Tyr (c.544G>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about DNAJC14 p.Asp182Tyr (c.544G>T)?

AlphaMissense predicts likely benign (score 0.1694) — an in-silico prediction, not a clinical call.

DNAJC14 p.Asp182Tyr

c.544G>T · VCV4013608

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.1694 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.1694	likely benign
REVEL	0.051	moderately benign-leaning
SaProt	LLR -7.15	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 3.3	GERP 0.51, phastCons 1
Regional constraint	o/e 0.99	unconstrained · MANE · 1,273 bp · p 0.74 · regional, not allelic
Overall
CADD	19.62	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — 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: DNAJC14
Protein: p.Asp182Tyr
Coding: c.544G>T
MANE Select: NM_032364
Type: single nucleotide variant
Location: chr12:55828115 (GRCh38)
Gene constraint: LOEUF 0.272 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 60.30
Residue 182: the 'disordered' region

Full DNAJC14 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

DNAJC14 p.Arg389Gln Likely benign ★★ same type
DNAJC14 p.Ala128Val Uncertain significance ★ ⚠ same type
DNAJC14 p.Ala161Thr Uncertain significance ★ ⚠ same type
DNAJC14 p.Ala20Gly Uncertain significance ★ ⚠ same type
DNAJC14 p.Ala20Val Uncertain significance ★ ⚠ same type
DNAJC14 p.Ala250Glu Uncertain significance ★ ⚠ same type
DNAJC14 p.Ala275Ser Uncertain significance ★ ⚠ same type
DNAJC14 p.Ala302Thr Uncertain significance ★ ⚠ 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/dnajc14-p-asp182tyr (accessed [today's date]).

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