Is CDC73 p.Ile18fs (c.54del) pathogenic?

CDC73 p.Ile18fs (c.54del) is classified Pathogenic in CDC73 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2002-12-01). Absent from gnomAD; Associated with Cystic parathyroid adenoma.

What condition is associated with CDC73 p.Ile18fs (c.54del)?

CDC73 p.Ile18fs (c.54del) is associated with Cystic parathyroid adenoma (ClinVar).

How common is CDC73 p.Ile18fs (c.54del) in the general population?

CDC73 p.Ile18fs (c.54del) is absent from gnomAD (gnomAD).

CDC73 p.Ile18fs

c.54del · rs587776557 · VCV3273

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Cystic parathyroid adenoma

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 1 of 17
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 0.47, 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: CDC73
Protein: p.Ile18fs
Coding: c.54del
MANE Select: NM_024529
dbSNP: rs587776557
Type: Deletion
Location: chr1:193122253 (GRCh38)
Gene constraint: LOEUF 0.42 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 73.94 · 21 PDB

Full CDC73 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Cystic parathyroid adenoma — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CDC73 p.Ile18Met Uncertain significance ★ same residue
CDC73 p.Ile18Thr Uncertain significance ★ ⚠ same residue
CDC73 p.Ile18Val Uncertain significance ★ ⚠ same residue
CDC73 p.Ile18= Likely benign ★ same residue
CDC73 p.Arg171fs Pathogenic ★★ same type
CDC73 p.Asn82fs Pathogenic ★★ same type
CDC73 p.Glu81fs Pathogenic ★★ same type
CDC73 p.Lys209fs Pathogenic ★★ same type

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/cdc73-p-ile18fs (accessed [today's date]).

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