Variant · Snv
LDLR NM_000527.5(LDLR):c.2140+5G>A
CI-VAR-00006840Explore in graph →NM_000527.5:c.2140+5G>AClinVar 36460 rs72658867
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 |
|---|---|---|---|---|---|---|---|---|
| 36460 | Benign | reviewed by expert panel | 3 | Hypercholesterolemia, familial, 1; Familial hypercholesterolemia; Cardiovascular phenotype; LDLR-related disorder; Sarcoma; Uterine carcinosarcoma; Cervical cancer; Gastric cancer; Thymoma; Lung cancer; Familial cancer of breast; Acute myeloid leukemia; Malignant tumor of esophagus; Nonpapillary renal cell carcinoma; Adrenocortical carcinoma, hereditary; Uterine corpus endometrial carcinoma; Colon adenocarcinoma; Colorectal cancer | germline | 28 | Jun 18, 2021 | clinvar |