Variant · Snv

PTEN R173C

CI-VAR-00003722Explore in graph →NP_000305.3:p.Arg173CysNM_000314.6:c.517C>TClinVar 189500 CIViC 838 rs121913293

Curated evidence

Evidence by cancer (5 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 1–5 of 5 evidence items across 4 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
Glioblastoma2
PTEN R173C	(diagnostic)	Diagnostic	C	Supports N/A	3	rejected	EID1932 Bostrom et al identified R173C in the tumor sample of 1 subject (out of 36 glioblastomas tested). By PCR mRNA expression of PTEN was assayed for tumor samples harboring PTEN variants. PTEN expression… (full text at CIViC) PMID 9426052 · Boström et al., 1998 · Open in CIViC	civic
PTEN R173C	(diagnostic)	Diagnostic	C	Supports N/A	2	submitted	EID1933 Fults et al identified 1 R173C mutation in a glioblastoma (of 45 tested). The tumor also displayed either all or partial LOH of 10q, there was no further resolution of the LOH size or mutational testi… (full text at CIViC) PMID 9499454 · Fults et al., 1998 · 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
189500	Pathogenic	reviewed by expert panel	3	Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor syndrome; VACTERL with hydrocephalus; Cowden syndrome 1; Macrocephaly-autism syndrome; Neurodevelopmental delay; Familial meningioma; Prostate cancer; Glioma susceptibility 2; Malignant lymphoma, large B-cell, diffuse; Neoplasm; Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	germline/somatic