EZH2 R690C

CI-VAR-00003880Explore in graph →NP_004447.2:p.Arg690CysNM_004456.5:c.2068C>TCIViC 3604

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
Unmapped disease1unmapped disease
EZH2 R690C	(functional)	Functional	D	Supports Loss Of Function	2	submitted	EID9865 EZH2 mutations were identified in a screen of 614 patients with myeloid malignancies. Several mutations in the highly conserved CXC-SET domain were expressed in Sf9 insect cells along with polycomb re… (full text at CIViC) PMID 20601953 · Ernst et al., 2010 · Open in CIViC	civic

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.