Variant · Insertion
BAP1 NM_004656.4(BAP1):c.145_146insATATACTTCAATGGATCCATA (p.Leu49delinsHisIleLeuGlnTrpIleHisMet)
CI-VAR-00316321Explore in graph →p.Leu49delinsHisIleLeuGlnTrpIleHisMetNM_004656.4:c.145_146insATATACTTCAATGGATCCATAClinVar 2747018 rs2471358600
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
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
- 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 |
|---|---|---|---|---|---|---|---|---|
| 2747018 | Uncertain significance | criteria provided, single submitter | 1 | BAP1-related tumor predisposition syndrome | germline | 1 | Jul 26, 2023 | clinvar |