Is CD2AP p.Arg111fs (c.330_334del) pathogenic?

CD2AP p.Arg111fs (c.330334del) is classified Likely pathogenic in CD2AP (ClinVar, Single submitter, 1 submitter; last evaluated 2024-10-07). Associated with focal segmental glomerulosclerosis 3, susceptibility to.

What condition is associated with CD2AP p.Arg111fs (c.330_334del)?

CD2AP p.Arg111fs (c.330_334del) is associated with focal segmental glomerulosclerosis 3, susceptibility to (ClinVar).

CD2AP p.Arg111fs

c.330_334del · VCV4292755

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

focal segmental glomerulosclerosis 3, susceptibility to

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 4 of 18
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.5	GERP -0.27, phastCons 1

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

Variant & gene context

Gene: CD2AP
Protein: p.Arg111fs
Coding: c.330_334del
MANE Select: NM_012120
Type: Deletion
Location: chr6:47544616 (GRCh38)
Gene constraint: LOEUF 0.815 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 63.04 · 12 PDB
Residue 111: the sh3 2 domain; the 'interaction with anln and localization to the midbody' region

Full CD2AP gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

focal segmental glomerulosclerosis 3, susceptibility to — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CD2AP p.Arg111His Uncertain significance ★★ ⚠ same residue
CD2AP p.Gln255fs Likely pathogenic ★ same condition
CD2AP c.1879-3del Uncertain significance ★ same condition
CD2AP p.Arg111Cys Uncertain significance ★ ⚠ same residue
CD2AP p.Asn581fs Pathogenic ★★ same condition
CD2AP p.Ser256fs Pathogenic/Likely pathogenic ★★ same condition
CD2AP c.1274+3A>G Uncertain significance ★★ same condition
CD2AP c.1633-6T>A 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/cd2ap-p-arg111fs (accessed [today's date]).

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