MTOR S2215Y

CI-VAR-00004025Explore in graph →NP_004949.1:p.Ser2215TyrNM_004958.3:c.6644C>AClinVar 376129 CIViC 542 rs587777894

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 Neoplasm1
MTOR S2215Y	Sirolimus	Predictive	D	Supports Sensitivity Response	2	accepted	EID1319 Cell lines with various putative activating mutations were tested for sensitivity to rapamycin. The cell line JHUEM7 with the MTOR mutation S2215Y was hypersensitive to rapamycin treatment (IC50 of 0.… (full text at CIViC) PMID 24631838 · Grabiner 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
376129	Pathogenic	reviewed by expert panel	3	Isolated focal cortical dysplasia type II; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes; Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	germline/somatic	4	Feb 17, 2022	clinvar