Is AIP p.Asp262Gly (c.785A>G) pathogenic?

AIP p.Asp262Gly (c.785A>G) is classified Uncertain significance in AIP (ClinVar, Single submitter, 1 submitter; last evaluated 2025-04-11). AlphaMissense: likely benign (0.0817); Absent from gnomAD v4.1; Associated with hereditary neoplastic syndrome.

What condition is associated with AIP p.Asp262Gly (c.785A>G)?

AIP p.Asp262Gly (c.785A>G) is associated with hereditary neoplastic syndrome (ClinVar).

How common is AIP p.Asp262Gly (c.785A>G) in the general population?

AIP p.Asp262Gly (c.785A>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about AIP p.Asp262Gly (c.785A>G)?

AlphaMissense predicts likely benign (score 0.0817) — an in-silico prediction, not a clinical call.

AIP p.Asp262Gly

c.785A>G · VCV4029764

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0817 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/2 damaging

AlphaMissense, SaProt · REVEL no call

Conditions

hereditary neoplastic syndrome

Computational evidence

Protein change
AlphaMissense	0.0817	likely benign
REVEL	0.383	indeterminate
SaProt	LLR -7.20	tolerated
⇒ AlphaMissense and SaProt both call this tolerated; REVEL makes no call.
Splicing
SpliceAI	<0.2	all four deltas below 0.2 · A>T here scores Δ0.27 · evaluated, not missing
Pangolin	Δ0.22	gain · loss 0.04 · SpliceAI below 0.2 · independent
Constraint at this position
Conservation	phyloP 11	GERP 1.8, phastCons 1
Overall
CADD	21.8	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: AIP
Protein: p.Asp262Gly
Coding: c.785A>G
MANE Select: NM_017900 · reported on NM_003977
Type: single nucleotide variant
Location: chr11:67490455 (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.Asp262Asn Uncertain significance ★★ ⚠ same residue
AIP p.Asp262Glu Uncertain significance ★★ ⚠ same residue
AIP p.Asp262His Uncertain significance ★★ ⚠ same residue
AIP p.Asp262= Likely benign ★★ same residue
AIP p.Asp262Val Uncertain significance ★ ⚠ same residue
AIP p.Asp262Tyr Uncertain significance ★ ⚠ same residue
AIP p.Arg271Trp Pathogenic/Likely pathogenic ★★ same condition
AIP p.Arg304Ter 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-asp262gly (accessed [today's date]).

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