Variant · Deletion
PSPH NM_004577.4(PSPH):c.275+1del
CI-VAR-00058639Explore in graph →NM_004577.4:c.275+1delClinVar 403351 rs139106189
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 |
|---|---|---|---|---|---|---|---|---|
| 403351 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Familial cancer of breast; Clear cell carcinoma of kidney; Glioma susceptibility 1; Gastric cancer; Melanoma; Malignant tumor of esophagus; Neurometabolic disorder due to serine deficiency; Papillary renal cell carcinoma type 1; Malignant tumor of urinary bladder | germline | 5 | Aug 22, 2023 | clinvar |