Germ cell tumor of testis: genes and variants
Germ cell tumor of testis is linked to 3 analyzed proteins (FGFR3, STK11 and KIT). 1 DNA variants are known to cause it; 29 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 Germ cell tumor of testis
FGFR3: Fibroblast growth factor receptor 3
It normally restrains growth-plate chondrocyte proliferation while regulating multiple developmental pathways. Activating germline variants cause achondroplasia and related skeletal dysplasias, while somatic activating alterations are common in bladder cancer and some other tumors.
1 disease-causing and 0 uncertain variants in FGFR3 are linked to Germ cell tumor of testis.
STK11: Serine/threonine-protein kinase STK11
It activates AMPK-family kinases to coordinate cellular energy sensing, polarity, and growth restraint. Germline loss-of-function variants cause Peutz-Jeghers syndrome and its associated cancer predisposition, while somatic loss is common in lung and other cancers.
0 disease-causing and 16 uncertain variants in STK11 are linked to Germ cell tumor of testis.
KIT: Mast/stem cell growth factor receptor Kit
Stem-cell-factor signaling through this pathway supports hematopoietic progenitors, mast cells, melanocytes, and germ cells. Activating variants drive gastrointestinal stromal tumors, systemic mastocytosis, and other malignancies, whereas loss-of-function variants can cause piebaldism.
0 disease-causing and 13 uncertain variants in KIT are linked to Germ cell tumor of testis.
Known disease-causing variants in Germ cell tumor of testis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FGFR3 G370C | 370 | Extracellular | Disease-causing (★★) |
Same protein, different disease
- FGFR3-related chondrodysplasia is also caused by FGFR3 variants; they fall mostly in different places as the Germ cell tumor of testis variants (20 disease-causing).
- Hypochondroplasia is also caused by FGFR3 variants; they fall mostly in different places as the Germ cell tumor of testis variants (15 disease-causing).
- Achondroplasia is also caused by FGFR3 variants; they fall mostly in different places as the Germ cell tumor of testis variants (9 disease-causing).
- Thanatophoric dysplasia is also caused by FGFR3 variants; they fall mostly in different places as the Germ cell tumor of testis variants (8 disease-causing).
- Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is also caused by FGFR3 variants; they fall mostly in different places as the Germ cell tumor of testis variants (5 disease-causing).
Diseases related to Germ cell tumor of testis
- Colorectal cancer, also linked to FGFR3 and KIT
- Renal cell carcinoma, also linked to FGFR3 and KIT
- Malignant tumor of testis, also linked to KIT and STK11
- Gastrointestinal stromal tumor, also linked to KIT
- Ovarian cancer, also linked to KIT
- Acute myeloid leukemia, also linked to KIT
- Peutz-Jeghers syndrome, also linked to STK11
- Connective tissue disorder, also linked to FGFR3
- FGFR3-related chondrodysplasia, also linked to FGFR3
- Malignant tumor of urinary bladder, also linked to FGFR3
- Non-small cell lung carcinoma, also linked to STK11
- Hypochondroplasia, also linked to FGFR3
Frequently asked questions
Which genes are linked to Germ cell tumor of testis?
In CATVariant, Germ cell tumor of testis is linked to 3 analyzed proteins: FGFR3 (Fibroblast growth factor receptor 3), STK11 (Serine/threonine-protein kinase STK11) and KIT (Mast/stem cell growth factor receptor Kit).
How many genetic variants are linked to Germ cell tumor of testis?
30 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 29 are of uncertain significance or have conflicting reports.
Which uncertain variants in Germ cell tumor of testis 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.
Download every variant as CSV · Browse all diseases · Methods · About the Center