PTEN R233*

CI-VAR-00003773Explore in graph →NP_000305.3:p.Arg233TerNM_000314.6:c.697C>TClinVar 7813 CIViC 110 rs121909219

Curated evidence

Evidence by cancer (2 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 1–2 of 2 evidence items across 2 cancer contexts 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
Glioblastoma1
PTEN R233*	(prognostic)	Prognostic	B	Does Not Support Poor Outcome	3	accepted	EID343 PTEN nonsense mutations, including R233*, have been shown to be inactivating and loss-of-function, but do not have prognostic value in glioblastoma multiforme patients. PMID 22479427 · Carico et al., 2012 · Open in CIViC	civic
Malignant Breast Neoplasm1
PTEN R233*	MTOR Inhibitor	Predictive	D	Supports Sensitivity Response	4	accepted	EID317 Cells with PTEN deficiency have been shown to exhibit slowed growth in reponse to PI3K-mTOR inhibitors. PMID 20085938 · Courtney et al., 2010 · 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
7813	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Cowden syndrome 1; PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing syndrome; Macrocephaly-autism syndrome; Cowden syndrome; Ovarian neoplasm; Abnormal cardiovascular system morphology; Gastric cancer; Glioma susceptibility 2; PTEN-related disorder; Neoplasm	germline/somatic	37