PTEN R130L

CI-VAR-00003650Explore in graph →CIViC 1038

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
PTEN R130L	(functional)	Functional	D	Supports Loss Of Function	2	submitted	EID13039 Functional analysis of 106 PTEN mutations associated with autism spectrum disorder (ASD), somatic cancer or PTEN hamartoma syndrome was performed using 18 assays in 5 model systems to measure PTEN act… (full text at CIViC) PMID 32350270 · Post et al., 2020 · 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.