Tumor predisposition syndrome 3: genes and variants
Tumor predisposition syndrome 3 is linked to 1 analyzed protein (POT1). 8 DNA variants are known to cause it; 809 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Tumor predisposition syndrome 3
POT1: Protection of telomeres protein 1
It binds the single-stranded ends of telomeres and helps control telomerase access while preventing chromosome ends from being mistaken for DNA breaks. Germline loss-of-function variants predispose to several cancers, including melanoma, glioma, and chronic lymphocytic leukemia, and can produce unusually long telomeres.
8 disease-causing and 809 uncertain variants in POT1 are linked to Tumor predisposition syndrome 3.
Weakly linked (only a few uncertain records): RAG1.
Known disease-causing variants in Tumor predisposition syndrome 3
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| POT1 D42E | 42 | DNA-binding | Disease-causing (★★) |
| POT1 I78T | 78 | Disease-causing (★★) | |
| POT1 K85N | 85 | Disease-causing (★★) | |
| POT1 R117C | 117 | Disease-causing (★★) | |
| POT1 M1I | 1 | Disease-causing (★) | |
| POT1 M1T | 1 | Disease-causing (★) | |
| POT1 R273L | 273 | DNA-binding | Disease-causing |
| POT1 Q623H | 623 | Disease-causing |
Diseases related to Tumor predisposition syndrome 3
- Dyskeratosis congenita, also linked to POT1
- Familial melanoma, also linked to POT1
- Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8, also linked to POT1
- Long telomere syndrome, also linked to POT1
Frequently asked questions
Which genes are linked to Tumor predisposition syndrome 3?
In CATVariant, Tumor predisposition syndrome 3 is linked to 1 analyzed protein: POT1 (Protection of telomeres protein 1).
How many genetic variants are linked to Tumor predisposition syndrome 3?
844 variants: 8 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 809 are of uncertain significance or have conflicting reports.
Which uncertain variants in Tumor predisposition syndrome 3 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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