Is AIP p.Asp27= (c.81C>T) pathogenic?

AIP p.Asp27= (c.81C>T) is classified Likely benign in AIP (ClinVar, Multiple submitters, 2 submitters; last evaluated 2021-12-24). Absent from gnomAD v4.1; Associated with hereditary neoplastic syndrome.

What condition is associated with AIP p.Asp27= (c.81C>T)?

AIP p.Asp27= (c.81C>T) is associated with hereditary neoplastic syndrome (ClinVar).

How common is AIP p.Asp27= (c.81C>T) in the general population?

AIP p.Asp27= (c.81C>T) is absent from gnomAD v4.1 (gnomAD).

AIP p.Asp27=

c.81C>T · rs2495387947 · VCV1762415

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Absent

absent from gnomAD v4.1

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 · no allele here is in the release
Constraint at this position
Conservation	phyloP 0.38	GERP -1.4, phastCons 0.99
Overall
CADD	8.21	PHRED · no single calibrated threshold — expert panels disagree

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.Asp27=
Coding: c.81C>T
MANE Select: NM_017900 · reported on NM_003977
dbSNP: rs2495387947
Type: single nucleotide variant
Location: chr11:67483239 (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.Asp27Ala Uncertain significance ★★ ⚠ same residue
AIP p.Asp27His Uncertain significance ★★ ⚠ same residue
AIP p.Asp27Asn Uncertain significance ★ ⚠ same residue
AIP p.Asp27Glu Uncertain significance ★ ⚠ same residue
AIP p.Asp27Val Uncertain significance ★ ⚠ same residue
AIP p.Arg271Trp Pathogenic/Likely pathogenic ★★ same condition
AIP p.Arg304Ter Pathogenic ★★ same condition
AIP p.Arg81Ter 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-asp27 (accessed [today's date]).

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