Is CEP135 p.Asp682fs (c.2044dup) pathogenic?

CEP135 p.Asp682fs (c.2044dup) is classified Likely pathogenic in CEP135 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-11-25). Associated with CEP135-related disorder.

What condition is associated with CEP135 p.Asp682fs (c.2044dup)?

CEP135 p.Asp682fs (c.2044dup) is associated with CEP135-related disorder (ClinVar).

CEP135 p.Asp682fs

c.2044dup · VCV4967239

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

CEP135-related disorder

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 16 of 26
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 3.1	GERP -1.1, phastCons 1

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

Variant & gene context

Gene: CEP135
Protein: p.Asp682fs
Coding: c.2044dup
MANE Select: NM_025009
Type: Duplication
Location: chr4:55999335 (GRCh38)
Gene constraint: LOEUF 0.989 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 77.15 · 2 PDB

Full CEP135 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

CEP135-related disorder

Similar variants

CEP135 p.His1048fs Pathogenic/Likely pathogenic ★★ same condition
CEP135 p.Arg686Ter Likely pathogenic ★ same condition
CEP135 p.Thr114Ile Uncertain significance ⚠ same condition
CEP135 c.1780-7T>C Likely benign same condition
CEP135 c.473-7T>C Likely benign same condition
CEP135 p.Pro179= Likely benign same condition
CEP135 p.Asn266fs Pathogenic ★ same type
CEP135 p.Asn312fs Pathogenic ★ 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/cep135-p-asp682fs (accessed [today's date]).

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