Variant · Snv
PAPSS2 NM_001015880.2(PAPSS2):c.28G>A (p.Glu10Lys)
CI-VAR-00049811Explore in graph →p.Glu10LysNM_001015880.2:c.28G>AClinVar 288334 rs17173698
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 |
|---|---|---|---|---|---|---|---|---|
| 288334 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Spondyloepimetaphyseal dysplasia, PAPSS2 type; Gastric cancer; Uterine carcinosarcoma; Hepatocellular carcinoma; Nonpapillary renal cell carcinoma; Sarcoma; Ovarian serous cystadenocarcinoma; Malignant tumor of esophagus; Lung cancer; Malignant lymphoma, large B-cell, diffuse; Colon adenocarcinoma; Colorectal cancer; Cervical cancer; Thymoma; Melanoma; Cholangiocarcinoma; Acute myeloid leukemia | germline | 6 | Feb 01, 2026 | clinvar |