MLH1 Q149*

CI-VAR-00003496Explore in graph →NP_000240.1:p.Gln149TerNM_000249.3:c.445C>TClinVar 90219 CIViC 753 rs63751302

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 Q149*	(oncogenic)	Oncogenic	C	Supports Oncogenicity	1	accepted	EID1817 MLH1 Q149* (c.445C > T), identified in a case of microsatellite-unstable colorectal cancer, was confirmed to be somatic in a 65 year old female patient with suspected Lynch Syndrome (LS). The patient … (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
90219	Pathogenic	reviewed by expert panel	3	Lynch syndrome; Hereditary cancer-predisposing syndrome; Colorectal cancer, hereditary nonpolyposis, type 2	germline	3	Sep 05, 2013	clinvar