VHL p.Pro71fs
c.210_211insA · VCV3754754
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
2
Chuvash polycythemia
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 3 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.1 | GERP -0.56, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- VHL
- Protein
- p.Pro71fs
- Coding
- c.210_211insA
- MANE Select
- NM_000551
- Type
- Insertion
- Location
- chr3:10142057 (GRCh38)
- Gene constraint
- LOEUF 0.987 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 85.45 · 143 PDB
- Residue 71
- a β-strand; a UniProt-annotated variant site (in vhld; type i)
Disease context
Chuvash polycythemia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: von Hippel-Lindau disease
For Chuvash erythrocytosis (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Infancy, Neonatal
Similar variants
- VHL p.Pro71Ser Uncertain significance ★★ ⚠ same residue
- VHL p.Pro71= Benign/Likely benign ★★ same residue
- VHL p.Pro71Thr Uncertain significance ★ ⚠ same residue
- VHL p.Arg4fs Uncertain significance ★★ same condition
- VHL p.Pro2fs Uncertain significance ★ same condition
- VHL p.Pro71Leu Uncertain significance ★ ⚠ same residue
- VHL p.Arg64Pro Pathogenic ★★★ same condition
- VHL p.Asn78Ser 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/vhl-p-pro71fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown