Variant · Indel
MLH1 R687FS
CI-VAR-00003878Explore in graph →NP_000240.1:p.Arg687GlyfsNM_000249.3:c.2059delCClinVar 218022 CIViC 735 rs863225381
Curated evidence
Evidence by cancer (1 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
- 25111426
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Malignant Colorectal Neoplasm1 | ||||||||
| MLH1 R687FS | (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1798MLH1 R687fs (c.2059del), identified in a case of microsatellite-unstable colorectal cancer, was confirmed to be somatic in a 33 year old male patient (patient id: sLS-3) with suspected Lynch Syndrome … (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | 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 |
|---|---|---|---|---|---|---|---|---|
| 218022 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Hereditary nonpolyposis colorectal neoplasms; Colorectal cancer, hereditary nonpolyposis, type 2 | germline | 3 | Jul 25, 2023 | clinvar |