Is AIP p.Pro147fs (c.437dup) pathogenic?

AIP p.Pro147fs (c.437dup) is classified Pathogenic in AIP (ClinVar, Single submitter, 1 submitter; last evaluated 2026-05-18). Associated with hereditary neoplastic syndrome.

What condition is associated with AIP p.Pro147fs (c.437dup)?

AIP p.Pro147fs (c.437dup) is associated with hereditary neoplastic syndrome (ClinVar).

AIP p.Pro147fs

c.437dup · VCV4868635

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

hereditary neoplastic syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function; NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.8	GERP 2, phastCons 1

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

Variant & gene context

Gene: AIP
Protein: p.Pro147fs
Coding: c.437dup
MANE Select: NM_017900 · reported on NM_003977
Type: Duplication
Location: chr11:67489423 (GRCh38)
Structure: AlphaFold pLDDT 70.14 · 81 PDB
Residue 147: an α-helix

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

Disease context

hereditary neoplastic syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

AIP p.Pro147Thr Uncertain significance ★★ ⚠ same residue
AIP p.Pro147Leu Uncertain significance ★ ⚠ same residue
AIP p.Phe269_His275dup Pathogenic ★★ same condition
AIP p.Ile76fs Pathogenic ★ same condition
AIP p.Phe68fs Pathogenic ★ same condition
AIP p.Ser255fs Pathogenic ★ same condition
AIP p.Arg307fs Conflicting classifications of pathogenicity ★ same condition
AIP p.Pro147Arg Uncertain significance ★ ⚠ same residue

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/aip-p-pro147fs (accessed [today's date]).

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