CDC73 p.Ala79fs
c.216_235dup · VCV3655453
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
parathyroid gland carcinoma
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 2 of 17 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.7 | GERP 0.99, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CDC73
- Protein
- p.Ala79fs
- Coding
- c.216_235dup
- MANE Select
- NM_024529
- Type
- Duplication
- Location
- chr1:193125195 (GRCh38)
- Gene constraint
- LOEUF 0.42 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 73.94 · 21 PDB
- Residue 79
- an α-helix
Disease context
parathyroid gland carcinoma — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Parathyroid carcinoma (Orphanet):
- Inheritance
- Not applicable
- Onset
- Adult
- Prevalence
- <1 / 1 000 000 (Europe)
Similar variants
- CDC73 p.Ala79Thr Uncertain significance ★ ⚠ same residue
- CDC73 c.1367_1417+426dup Uncertain significance ★★ same condition
- CDC73 c.1560-4dup Benign/Likely benign ★★ same condition
- CDC73 c.829-5dup Benign/Likely benign ★★ same condition
- CDC73 c.908-6dup Benign/Likely benign ★★ same condition
- CDC73 p.Arg342fs Pathogenic ★ same condition
- CDC73 p.Gln413fs Pathogenic ★ same condition
- CDC73 p.Gln437fs 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/cdc73-p-ala79fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown