Variant · Snv
CTPS1 NM_001905.4(CTPS1):c.501A>G (p.Gln167=)
CI-VAR-00072333Explore in graph →p.Gln167=NM_001905.4:c.501A>GClinVar 475187 rs5030799
Curated evidence
Evidence by cancer (0 items)
Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.
Data not yet available
No curated evidence item references this variant yet.
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-14
- Retrieved
- Sep 15, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260915-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 475187 | Benign | criteria provided, multiple submitters, no conflicts | 2 | Combined immunodeficiency due to CTPS1 deficiency; Uterine carcinosarcoma; Thymoma; Thyroid cancer, nonmedullary, 1; Melanoma; Uterine corpus endometrial carcinoma; Cervical cancer; Ovarian serous cystadenocarcinoma; Cholangiocarcinoma | germline | 4 | Feb 04, 2026 | clinvar |