Is AIP p.Ser255fs (c.756_762dup) pathogenic?

AIP p.Ser255fs (c.756762dup) is classified Pathogenic in AIP (ClinVar, Single submitter, 1 submitter; last evaluated 2024-01-18). Absent from gnomAD; Associated with hereditary neoplastic syndrome.

What condition is associated with AIP p.Ser255fs (c.756_762dup)?

AIP p.Ser255fs (c.756_762dup) is associated with hereditary neoplastic syndrome (ClinVar).

How common is AIP p.Ser255fs (c.756_762dup) in the general population?

AIP p.Ser255fs (c.756_762dup) is absent from gnomAD (gnomAD).

AIP p.Ser255fs

c.756_762dup · rs2495407485 · VCV3223627

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 8.1	GERP 1.8, phastCons 1

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

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: AIP
Protein: p.Ser255fs
Coding: c.756_762dup
MANE Select: NM_017900 · reported on NM_003977
dbSNP: rs2495407485
Type: Duplication
Location: chr11:67490425 (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.Phe269_His275dup Pathogenic ★★ same condition
AIP p.Ile76fs Pathogenic ★ same condition
AIP p.Phe68fs Pathogenic ★ same condition
AIP p.Pro147fs Pathogenic ★ same condition
AIP p.Arg307fs Conflicting classifications of pathogenicity ★ same condition
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-ser255fs (accessed [today's date]).

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