Is IFT80 p.Ala120= (c.360A>G) pathogenic?

IFT80 p.Ala120= (c.360A>G) is classified Likely benign in IFT80 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-07-28). Very rare (popmax 0.00111%, sas); Associated with Jeune syndrome.

What condition is associated with IFT80 p.Ala120= (c.360A>G)?

IFT80 p.Ala120= (c.360A>G) is associated with Jeune syndrome (ClinVar).

How common is IFT80 p.Ala120= (c.360A>G) in the general population?

IFT80 p.Ala120= (c.360A>G) is very rare (popmax 0.00111%, sas) (gnomAD).

IFT80 p.Ala120=

c.360A>G · rs2108396922 · VCV1608732

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00111%, sas)

Conditions

Jeune 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 -1.4	GERP -0.91, phastCons 0.001
Overall
CADD	8.622	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00111% South Asian · 1/90,304 alleles

Overall 0.000127% 2/1,579,342 alleles · very rare exomes 2/1,427,010 · genomes 0/152,332 · joint denominator

Ancestry group	Frequency	1 in
South Asiangrpmax	0.00111%	90,304
European (non-Finnish)	8.71e-05%	1,148,725

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: IFT80
Protein: p.Ala120=
Coding: c.360A>G
MANE Select: NM_020800
dbSNP: rs2108396922
Type: single nucleotide variant
Location: chr3:160377440 (GRCh38)
Gene constraint: LOEUF 0.739 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 92.50

Full IFT80 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Jeune syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

IFT80 p.Ala120Gly Uncertain significance ★ ⚠ same residue
IFT80 p.Arg495Ter Pathogenic/Likely pathogenic ★★ same condition
IFT80 p.Trp155Ter Pathogenic/Likely pathogenic ★★ same condition
IFT80 c.1076+6C>A Uncertain significance ★★ same condition
IFT80 c.1836+5T>C Uncertain significance ★★ same condition
IFT80 c.370+6T>C Uncertain significance ★★ same condition
IFT80 p.Ala154Val Uncertain significance ★★ ⚠ same condition
IFT80 p.Ala236Val Uncertain significance ★★ ⚠ 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/ift80-p-ala120 (accessed [today's date]).

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