MLH1 T117M

CI-VAR-00004263Explore in graph →NP_000240.1:p.Thr117MetNM_000249.3:c.350C>TClinVar 17094 CIViC 743 rs63750781

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 T117M	(oncogenic)	Oncogenic	C	Supports Oncogenicity	1	accepted	EID1806 MLH1 T117M (c.350C > T), identified in three cases of microsatellite-unstable colorectal cancer, was confirmed to be somatic in patients with suspected Lynch Syndrome (LS). The patients were therefore… (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
17094	Pathogenic	reviewed by expert panel	3	Colorectal cancer, hereditary nonpolyposis, type 2; Lynch syndrome; Lynch syndrome 1; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syndrome; Lynch-like syndrome; Endometrial carcinoma; Colon cancer; Inherited MMR deficiency (Lynch syndrome); Muir-Torré syndrome; Mismatch repair cancer syndrome 1; MLH1-related disorder	germline/somatic