Variant · Splice
MET Splice Site (c.3028+1G>T)
CI-VAR-00004203Explore in graph →NM_000245.4:c.3028+1G>TClinVar 225227 CIViC 4374 rs869320707
Curated evidence
Evidence by cancer (3 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.
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 16397241
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Malignant Lung Neoplasm1 | ||||||||
| MET Splice Site (c.3028+1G>T) | (oncogenic) | Oncogenic | D | Supports Oncogenicity | 3 | submitted | EID11221A homozygous splice site point mutation at the donor site of Met Exon 14 (G>T at +1 position; Figure 1A, and Figure S1a) was identified in the H596 lung cancer cell line. RT-PCR of RNA demonstrated sk… (full text at CIViC) PMID 16397241 · Kong-Beltran et al., 2006 · Open in CIViC | civic |
| Unmapped disease2unmapped disease | ||||||||
| MET Exon 14 Skipping Mutation AND MET Splice Site (c.3028+1G>T) | (functional) | Functional | B | Supports Gain Of Function | 3 | submitted | EID128391141 patients with lung cancer were analyzed using NGS, to which MET exon 14 mutations were found in 28 (3.0%) of them. Of the 28, 24 samples had RNA available for qRT-PCR for MET splicing. 23/24 (96%… (full text at CIViC) | |
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 |
|---|---|---|---|---|---|---|---|---|
| 225227 | Uncertain significance | criteria provided, single submitter | 1 | Osteofibrous dysplasia; Renal cell carcinoma | germline | 3 | Aug 13, 2025 | clinvar |