Is UNC45A p.Asp484fs (c.1451_1452insG) pathogenic?

UNC45A p.Asp484fs (c.14511452insG) is classified Pathogenic in UNC45A (ClinVar, No assertion criteria, 1 submitter; last evaluated 2024-03-11). No gnomAD frequency available for this variant; Associated with osteootohepatoenteric syndrome.

What condition is associated with UNC45A p.Asp484fs (c.1451_1452insG)?

UNC45A p.Asp484fs (c.1451_1452insG) is associated with osteootohepatoenteric syndrome (ClinVar).

How common is UNC45A p.Asp484fs (c.1451_1452insG) in the general population?

UNC45A p.Asp484fs (c.1451_1452insG) is no gnomAD frequency available for this variant (gnomAD).

UNC45A p.Asp484fs

c.1451_1452insG · rs2543155958 · VCV3061787

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

osteootohepatoenteric syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 10 of 20
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 9.3	GERP 2.1, 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: UNC45A
Protein: p.Asp484fs
Coding: c.1451_1452insG
MANE Select: NM_018671
dbSNP: rs2543155958
Type: Insertion
Location: chr15:90946865 (GRCh38)
Gene constraint: LOEUF 0.885 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 86.36 · 1 PDB
Residue 484: a UniProt-annotated variant site (in oohe; uncertain significance)

Full UNC45A gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

osteootohepatoenteric syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

UNC45A p.Asp484Glu Uncertain significance ★ ⚠ same residue
UNC45A p.Asp484His Uncertain significance ★ ⚠ same residue
UNC45A p.Met723Ile Uncertain significance ★★ ⚠ same condition
UNC45A c.1027+1G>A Likely pathogenic ★ same condition
UNC45A c.213+1G>C Likely pathogenic ★ same condition
UNC45A c.1500+1G>A Uncertain significance ★ same condition
UNC45A p.Ala40Asp Conflicting classifications of pathogenicity ★ ⚠ same condition
UNC45A p.Arg241Ter 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/unc45a-p-asp484fs (accessed [today's date]).

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