MLH1 K618DEL

CI-VAR-00002151Explore in graph →NP_000240.1:p.Lys618delNM_000249.3:c.1852_1854delAAGClinVar 17080 CIViC 733 rs63751247

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.

civicCuratedShowing 1–1 of 1 evidence items across 1 cancer context on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Malignant Colorectal Neoplasm1
MLH1 K618DEL	(oncogenic)	Oncogenic	C	Supports Oncogenicity	1	accepted	EID1796 MLH1 K618del (c.1852_1854del), identified in two cases of microsatellite-unstable colorectal cancer, was confirmed to be somatic in both patients with suspected Lynch Syndrome (LS). Both patients were… (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.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
17080	Pathogenic	reviewed by expert panel	3	Mismatch repair cancer syndrome 1; Lynch syndrome; Hereditary cancer-predisposing syndrome; Colorectal cancer, hereditary nonpolyposis, type 2; Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome 1; Lynch-like syndrome; Carcinoma of colon; Muir-Torré syndrome; Hereditary nonpolyposis colon cancer; MLH1-related disorder	germline/somatic	29