Is UCP3 p.Ser93= (c.279C>G) pathogenic?

UCP3 p.Ser93= (c.279C>G) is classified Likely benign in UCP3 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2022-08-09). Very rare (popmax 8.47e-05%, nfe); Associated with UCP3-related disorder.

What condition is associated with UCP3 p.Ser93= (c.279C>G)?

UCP3 p.Ser93= (c.279C>G) is associated with UCP3-related disorder (ClinVar).

How common is UCP3 p.Ser93= (c.279C>G) in the general population?

UCP3 p.Ser93= (c.279C>G) is very rare (popmax 8.47e-05%, nfe) (gnomAD).

UCP3 p.Ser93=

c.279C>G · VCV3354435

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 8.47e-05%, nfe)

Conditions

UCP3-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP 3.3	GERP -0.39, phastCons 1
Overall
CADD	10.35	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 8.47e-05% European (non-Finnish) · 1/1,180,048 alleles

Overall 6.2e-05% 1/1,614,150 alleles · very rare exomes 1/1,461,800 · genomes 0/152,350 · joint denominator

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: UCP3
Protein: p.Ser93=
Coding: c.279C>G
MANE Select: NM_003356
Type: single nucleotide variant
Location: chr11:74006227 (GRCh38)
Gene constraint: LOEUF 1.2 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 62.65

Full UCP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

UCP3-related disorder

Similar variants

UCP3 p.Ser93Phe Uncertain significance ★ ⚠ same residue
UCP3 p.Val142Ile Uncertain significance ★★ ⚠ same condition
UCP3 c.824+1G>A Benign ★★ same condition
UCP3 p.Val304Gly Uncertain significance ★ ⚠ same condition
UCP3 p.Ala130Val Uncertain significance ⚠ same condition
UCP3 p.Ala224Thr Uncertain significance ⚠ same condition
UCP3 p.Ala227Val Uncertain significance ⚠ same condition
UCP3 p.Ala231Val 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/ucp3-p-ser93 (accessed [today's date]).

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