Is CEL p.Gln113Ter (c.337C>T) pathogenic?

CEL p.Gln113Ter (c.337C>T) is classified Conflicting classifications of pathogenicity in CEL (ClinVar, Conflicting submitters, 5 submitters; last evaluated 2026-06-17). Rare (popmax 0.198%, mid); Associated with maturity-onset diabetes of the young type 8.

What condition is associated with CEL p.Gln113Ter (c.337C>T)?

CEL p.Gln113Ter (c.337C>T) is associated with maturity-onset diabetes of the young type 8 (ClinVar).

How common is CEL p.Gln113Ter (c.337C>T) in the general population?

CEL p.Gln113Ter (c.337C>T) is rare (popmax 0.198%, mid) (gnomAD).

How is MODY inherited?

Typically Autosomal dominant, Not applicable (Orphanet). A genetic counselor can assess individual risk for a family.

CEL p.Gln113Ter

c.337C>T · rs1200339761 · VCV1301626

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 5 submitters

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Rare

rare (popmax 0.198%, mid)

Conditions

maturity-onset diabetes of the young type 8

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal.
Consequence	nonsense (stop-gain)	predicted loss-of-function
NMD	predicted	premature termination codon in exon 3 of 11
Splicing
SpliceAI	Δ0.98	donor gain · deltas
Pangolin	Δ0.61	gain · loss 0.51 · agrees with SpliceAI · independent
Constraint at this position
Conservation	phyloP -0.11	GERP -2.3, phastCons 0.33
Overall
CADD	42.0	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

Grpmax group 0.198% Middle Eastern · 12/6,056 alleles

Filtering AF 0.114% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0896%

Overall 0.00116% 17/1,461,658 alleles · rare

Ancestry group	Frequency	1 in
Middle Easterngrpmax	0.198%	505
Remaining individualsnot grpmax-eligible	0.0016%	62,492
European (non-Finnish)	0.000339%	295,004

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: CEL
Protein: p.Gln113Ter
Coding: c.337C>T
MANE Select: NM_001807
dbSNP: rs1200339761
Type: single nucleotide variant
Location: chr9:133064759 (GRCh38)
Gene constraint: LOEUF 0.972 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 84.10 · 7 PDB
Residue 113: the 'heparin-binding' region; a β-strand

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

Disease context

maturity-onset diabetes of the young type 8 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For MODY (Orphanet):

Inheritance: Autosomal dominant, Not applicable
Onset: Adolescent, Adult, Childhood
Prevalence: 1-5 / 10 000 (Europe)

Similar variants

CEL c.67-3C>A Uncertain significance ★★ same condition
CEL p.Ala295Ser Uncertain significance ★★ same condition
CEL p.Ala548Glu Uncertain significance ★★ same condition
CEL p.Ala722Val Uncertain significance ★★ same condition
CEL p.Arg116Gln Uncertain significance ★★ same condition
CEL p.Arg185Trp Uncertain significance ★★ same condition
CEL p.Arg443Trp Uncertain significance ★★ same condition
CEL p.Asn37Ser 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/cel-p-gln113ter (accessed [today's date]).

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