PTEN R130*

CI-VAR-00003647Explore in graph →NP_000305.3:p.Arg130TerNM_000314.6:c.388C>TClinVar 7819 CIViC 636 rs121909224

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 Thyroid Gland Neoplasm1
PTEN R130*	Perifosine + TemsirolimusSubstitutes	Predictive	D	Supports Sensitivity Response	2	accepted	EID1627 Preclinical study in thyroid cancer cell lines. 6 cell lines with alterations of the PI3K/Akt pathway were more sensitive to Akt inhibitor perifosine or MTOR inhibitor temsirolimus than 5 cell lines w… (full text at CIViC) PMID 19706758 · Liu et al., 2009 · 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
7819	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Cowden syndrome 1; Macrocephaly-autism syndrome; Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor syndrome; Ovarian neoplasm; Rhabdomyosarcoma; Abnormal cardiovascular system morphology; Glioma susceptibility 2; Prostate cancer; Familial meningioma; Gastric cancer; PTEN-related disorder; Neoplasm; Cowden syndrome; Colorectal cancer; Familial prostate cancer