Variant · Snv
MLH1 A424T
CI-VAR-00000099Explore in graph →NP_000240.1:p.Ala424ThrNM_000249.3:c.1270G>AClinVar 220203 CIViC 752 rs377433038
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 A424T | (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1816MLH1 A424T (c.1270G>A), identified in a case of microsatellite-unstable colorectal cancer, was confirmed to be somatic in a 45 year old male patient (id: sLS-13) with suspected Lynch Syndrome (LS). Th… (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 |
|---|---|---|---|---|---|---|---|---|
| 220203 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syndrome; Colorectal cancer, hereditary nonpolyposis, type 2; Lynch syndrome; Mismatch repair cancer syndrome 1; Muir-Torré syndrome | germline | 14 | Feb 03, 2026 |