Variant · Snv
SP110 NM_080424.4(SP110):c.1447G>A (p.Gly483Arg)
CI-VAR-00050420Explore in graph →p.Gly483ArgNM_080424.4:c.1447G>AClinVar 334904 rs149485401
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 |
|---|---|---|---|---|---|---|---|---|
| 334904 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Hepatic veno-occlusive disease-immunodeficiency syndrome; Mycobacterium tuberculosis, susceptibility to; SP110-related disorder; Clear cell carcinoma of kidney; Familial pancreatic carcinoma; Colon adenocarcinoma; Sarcoma; Uterine corpus endometrial carcinoma; Lymphoma; Uterine carcinosarcoma; Adrenocortical carcinoma, hereditary; Cervical cancer; Chronic lymphocytic leukemia/small lymphocytic lymphoma; Gastric cancer; Thyroid cancer, nonmedullary, 1; Cholangiocarcinoma; Ovarian serous cystadenocarcinoma; Thymoma; Acute myeloid leukemia; Hepatocellular carcinoma; Nonpapillary renal cell carcinoma; Lung cancer | germline | 7 | Jun 01, 2026 | clinvar |