Variant · Snv
ABCA2 NM_212533.3(ABCA2):c.1A>G (p.Met1Val)
CI-VAR-00127066Explore in graph →p.Met1ValNM_212533.3:c.1A>GClinVar 785303 rs142807525
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
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 785303 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ABCA2-related disorder; Uterine corpus endometrial carcinoma; Clear cell carcinoma of kidney; Familial cancer of breast | germline | 4 | Jul 13, 2018 | clinvar |