Variant · Snv
MSH6 V352I
CI-VAR-00004520Explore in graph →NP_000170.1:p.Val352IleNM_000179.2:c.1054G>AClinVar 182617 CIViC 775 rs730881787
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 Endometrial Neoplasm1 | ||||||||
| MSH6 V352I | (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1839This variant (V352I), identified in a case of microsatellite-unstable endometrial cancer, was confirmed to be somatic in a 69 year-old female patient with suspected Lynch Syndrome (LS). The patient wa… (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 |
|---|---|---|---|---|---|---|---|---|
| 182617 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Hereditary cancer-predisposing syndrome; Lynch syndrome 5; Hereditary nonpolyposis colorectal neoplasms; Hereditary nonpolyposis colon cancer; MSH6-related disorder; Hereditary breast ovarian cancer syndrome; Lynch syndrome | germline | 15 | Jan 13, 2026 |