MSH6 R1242H

CI-VAR-00003640Explore in graph →NP_000170.1:p.Arg1242HisNM_000179.2:c.3725G>AClinVar 140866 CIViC 767 rs63750119

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
MSH6 R1242H	(oncogenic)	Oncogenic	C	Supports Oncogenicity	1	accepted	EID1831 This variant (R1242H), identified in a case of microsatellite-unstable colorectal cancer was confirmed to be somatic in a 79 year-old male patient (sLS-37) with suspected Lynch Syndrome (LS). The pati… (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
140866	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colon cancer; Lynch syndrome 5; Hereditary nonpolyposis colorectal neoplasms; Endometrial carcinoma; Lynch syndrome; Mismatch repair cancer syndrome 3	germline	16	Dec 29, 2025