Variant · Snv
MLH1 N551T
CI-VAR-00002920Explore in graph →NP_000240.1:p.Asn551ThrNM_000249.3:c.1652A>CClinVar 89819 CIViC 751 rs63750271
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 N551T | (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1815MLH1 N551T (c.1652A > C) identified in a case of microsatellite-unstable colorectal cancer was confirmed to be somatic in a 51 year old female patient (id: sLS-12) with suspected Lynch Syndrome (LS). … (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 |
|---|---|---|---|---|---|---|---|---|
| 89819 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neoplasms | germline | 3 | Nov 17, 2023 | clinvar |