CDC73 p.Ser103fs
c.306del · VCV4891559
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
hyperparathyroidism 1
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 3 of 17 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP 1.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CDC73
- Protein
- p.Ser103fs
- Coding
- c.306del
- MANE Select
- NM_024529
- Type
- Deletion
- Location
- chr1:193130242 (GRCh38)
- Gene constraint
- LOEUF 0.42 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 73.94 · 21 PDB
Disease context
hyperparathyroidism 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Familial isolated hyperparathyroidism (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Adult
Similar variants
- CDC73 p.Lys209fs Pathogenic ★★ same condition
- CDC73 p.Ser174fs Pathogenic ★★ same condition
- CDC73 p.Ser103Pro Uncertain significance ★★ ⚠ same residue
- CDC73 c.908-6del Likely benign ★★ same condition
- CDC73 p.Ser103= Likely benign ★★ same residue
- CDC73 c.512+1del Likely pathogenic ★ same condition
- CDC73 p.Ala184fs Likely pathogenic ★ same condition
- CDC73 p.Arg259_Glu260delinsLys 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/cdc73-p-ser103fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown