Variant · Snv
MSH6 R1242C
CI-VAR-00003639Explore in graph →NP_000170.1:p.Arg1242CysNM_000179.2:c.3724C>TClinVar 232375 CIViC 776 rs587779285
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 | ||||||||
| MSH6 R1242C | (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1840MSH6 R1242C (c.3724C > T), identified in a case of microsatellite-unstable colorectal cancer, was confirmed to be somatic in a 53 year old male patient with suspected Lynch Syndrome (LS). The patient … (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 |
|---|---|---|---|---|---|---|---|---|
| 232375 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neoplasms; Endometrial carcinoma; Lynch syndrome | germline | 7 | Mar 20, 2026 | clinvar |