Is AIP p.Glu24Ter (c.70G>T) pathogenic?

AIP p.Glu24Ter (c.70G>T) is classified Pathogenic in AIP (ClinVar, Single submitter, 2 submitters; last evaluated 2020-03-12). Absent from gnomAD v4.1; Associated with growth hormone secreting pituitary adenoma 1.

What condition is associated with AIP p.Glu24Ter (c.70G>T)?

AIP p.Glu24Ter (c.70G>T) is associated with growth hormone secreting pituitary adenoma 1 (ClinVar).

How common is AIP p.Glu24Ter (c.70G>T) in the general population?

AIP p.Glu24Ter (c.70G>T) is absent from gnomAD v4.1 (gnomAD).

How is Familial isolated pituitary adenoma inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

AIP p.Glu24Ter

c.70G>T · rs267606568 · VCV41196

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 2 submitters

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

growth hormone secreting pituitary adenoma 1

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	nonsense (stop-gain)	predicted loss-of-function; NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 9.7	GERP 2, phastCons 1
Overall
CADD	37.0	PHRED · no single calibrated threshold — expert panels disagree

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

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.Glu24Ter
Coding: c.70G>T
MANE Select: NM_017900 · reported on NM_003977
dbSNP: rs267606568
Type: single nucleotide variant
Location: chr11:67483228 (GRCh38)
Structure: AlphaFold pLDDT 70.14 · 81 PDB

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

Disease context

growth hormone secreting pituitary adenoma 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Familial isolated pituitary adenoma (Orphanet):

Inheritance: Autosomal dominant
Onset: Adolescent, Adult, Childhood, Elderly, Infancy

Similar variants

AIP p.Glu24Gln Uncertain significance ★★ ⚠ same residue
AIP p.Glu24Asp Benign/Likely benign ★★ same residue
AIP p.Glu24Lys Uncertain significance ★ ⚠ same residue
AIP p.Glu24Val Uncertain significance ★ ⚠ same residue
AURKAIP1 p.Pro24Ser 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-glu24ter (accessed [today's date]).

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