Is AIP p.Asp263del (c.784GAC[1]) pathogenic?

AIP p.Asp263del (c.784GAC[1]) is classified Uncertain significance in AIP (ClinVar, Multiple submitters, 2 submitters; last evaluated 2024-10-02). Very rare (popmax 0.000678%, nfe); Associated with hereditary neoplastic syndrome.

What condition is associated with AIP p.Asp263del (c.784GAC[1])?

AIP p.Asp263del (c.784GAC[1]) is associated with hereditary neoplastic syndrome (ClinVar).

How common is AIP p.Asp263del (c.784GAC[1]) in the general population?

AIP p.Asp263del (c.784GAC[1]) is very rare (popmax 0.000678%, nfe) (gnomAD).

AIP p.Asp263del

c.784GAC[1] · rs770434824 · VCV1026055

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

very rare (popmax 0.000678%, nfe)

Conditions

hereditary neoplastic syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 6.2	GERP 1.8, phastCons 1

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.000678% European (non-Finnish) · 8/1,179,990 alleles

Filtering AF 0.000292% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000211%

Overall 0.000548% 8/1,458,588 alleles · very rare

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: AIP
Protein: p.Asp263del
Coding: c.784GAC[1]
MANE Select: NM_017900 · reported on NM_003977
dbSNP: rs770434824
Type: Microsatellite
Location: chr11:67490452 (GRCh38)
Structure: AlphaFold pLDDT 70.14 · 81 PDB

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.Asp263Asn Uncertain significance ★★ ⚠ same residue
AIP p.Met1del Likely pathogenic ★ same condition
AIP p.Asp263Glu Uncertain significance ★ ⚠ same residue
AIP p.Asp52del Uncertain significance ★ same condition
AIP p.Arg271Trp Pathogenic/Likely pathogenic ★★ same condition
AIP p.Arg304Ter Pathogenic ★★ same condition
AIP p.Arg81Ter Pathogenic ★★ same condition
AIP p.Cys238Tyr Likely pathogenic ★★ 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/aip-p-asp263del (accessed [today's date]).

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