Is CIDEC p.Glu186Ter (c.556G>T) pathogenic?

CIDEC p.Glu186Ter (c.556G>T) is classified Pathogenic in CIDEC (ClinVar, No assertion criteria, 1 submitter; last evaluated 2009-08-01). Absent from gnomAD v4.1; Associated with CIDEC-related familial partial lipodystrophy.

What condition is associated with CIDEC p.Glu186Ter (c.556G>T)?

CIDEC p.Glu186Ter (c.556G>T) is associated with CIDEC-related familial partial lipodystrophy (ClinVar).

How common is CIDEC p.Glu186Ter (c.556G>T) in the general population?

CIDEC p.Glu186Ter (c.556G>T) is absent from gnomAD v4.1 (gnomAD).

How is CIDEC-related familial partial lipodystrophy inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

CIDEC p.Glu186Ter

c.556G>T · rs587776968 · VCV50400

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

CIDEC-related familial partial lipodystrophy

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	nonsense (stop-gain)	predicted loss-of-function
NMD	escapes	premature termination codon in the last exon (7 of 7) — the truncated protein is likely expressed. PVS1 input, not an applied code
REVEL	0.155	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 3.3	GERP 1.9, phastCons 1
Overall
CADD	44.0	PHRED · no single calibrated threshold — expert panels disagree

Predicted loss-of-function is descriptive, not an applied PVS1 code.

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: CIDEC
Protein: p.Glu186Ter
Coding: c.556G>T
MANE Select: NM_001321142
dbSNP: rs587776968
Type: single nucleotide variant
Location: chr3:9867295 (GRCh38)
Gene constraint: LOEUF 0.927 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 74.19

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

Disease context

CIDEC-related familial partial lipodystrophy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For CIDEC-related familial partial lipodystrophy (Orphanet):

Inheritance: Autosomal recessive
Onset: Adolescent
Prevalence: <1 / 1 000 000 (Worldwide)

Similar variants

CIDEC p.Leu32= Benign ★★ same condition
CIDEC p.Gln211fs Likely pathogenic ★ same condition
CIDEC p.Gly204fs Likely pathogenic ★ same condition
CIDEC p.Lys223fs Uncertain significance ★ same condition
CIDEC p.Arg182His Uncertain significance ★★ ⚠ same type
CIDEC p.Ile156Thr Uncertain significance ★★ ⚠ same type
CIDEC p.Met195Ile Uncertain significance ★★ ⚠ same type
CIDEC p.Val54Met 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/cidec-p-glu186ter (accessed [today's date]).

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