Variant · Snv
CFH NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr)
CI-VAR-00050172Explore in graph →p.Asn1050TyrNM_000186.4:c.3148A>TClinVar 294520 rs35274867
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
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 294520 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Basal laminar drusen; CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4; Thrombotic microangiopathy; Atypical hemolytic-uremic syndrome; Factor H deficiency; Acute myeloid leukemia; Hepatocellular carcinoma; Malignant tumor of esophagus; Adrenocortical carcinoma, hereditary; Uveal melanoma; Colorectal cancer; Sarcoma; Gastric cancer; Uterine corpus endometrial carcinoma; Thymoma; Melanoma; Lung cancer; Clear cell carcinoma of kidney; Uterine carcinosarcoma; Thyroid cancer, nonmedullary, 1; Cervical cancer | germline | 13 | Apr 01, 2026 | clinvar |