MSH2 R383*

CI-VAR-00003842Explore in graph →NP_000242.1:p.Arg383TerNM_000251.2:c.1147C>TClinVar 90554 CIViC 727 rs63749849

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 Endometrial Neoplasm1
MSH2 R383*	(oncogenic)	Oncogenic	C	Supports Oncogenicity	1	accepted	EID1790 This variant (R383*), identified in two patients, was confirmed to be a somatic mutation in both patients' microsatellite-unstable tumors (39 year-old female with endometrial cancer & 34 year-old fema… (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
90554	Pathogenic	reviewed by expert panel	3	Lynch syndrome; Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome 1; Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Hereditary nonpolyposis colon cancer; Lynch-like syndrome; Rhabdomyosarcoma; Inherited MMR deficiency (Lynch syndrome); MSH2-related disorder	germline/somatic	27