POT1 c.10dupG
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
hereditary neoplastic syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.67 | GERP 0.48, phastCons 0.95 |
| Non-coding constraint | Z 0.79 | 1 kb window · o/e 0.94 · regional · uncalibrated |
Variant & gene context
- Gene
- POT1
- Coding
- c.10dupG
- MANE Select
- NM_015450
- Type
- Duplication
- Location
- chr7:124892379 (GRCh38)
- Gene constraint
- LOEUF 0.871 · pLI <0.01 · ClinGen HI 2/3 (gnomAD)
- Structure
- AlphaFold pLDDT 87.63 · 14 PDB
Similar variants
- POT1 p.Asn441fs Pathogenic/Likely pathogenic ★★ same condition
- POT1 p.Cys506fs Pathogenic ★★ same condition
- POT1 p.Gln358fs Pathogenic/Likely pathogenic ★★ same condition
- POT1 p.Gly319fs Pathogenic ★★ same condition
- POT1 p.His211fs Pathogenic ★★ same condition
- POT1 p.Ile72fs Pathogenic ★★ same condition
- POT1 p.Leu110fs Pathogenic ★★ same condition
- POT1 p.Tyr558fs Pathogenic/Likely 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/pot1-c-10dupg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown