Variant · Snv

PIK3CA Q546R

CI-VAR-00003550Explore in graph →NP_006209.2:p.Gln546ArgNM_006218.4:c.1637A>GClinVar 45466 CIViC 888 rs397517201

Curated evidence

Evidence by cancer (4 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 1–4 of 4 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
Malignant Breast Neoplasm3
PIK3CA Q546E OR PIK3CA Q546R	Alpelisib + FulvestrantCombination	Predictive	A	Supports Sensitivity Response	5	accepted	EID7316 In a phase 3 trial, patients with hormone receptor positive, HER2 receptor negative breast were allocated to alpelisib plus fulvestrant or placebo plus fulvestrant. Patients were enrolled into two coh… (full text at CIViC) PMID 31091374 · André et al., 2019 · Open in CIViC	civic
PIK3CA Q546K OR PIK3CA Q546E OR PIK3CA Q546P OR PIK3CA Q546R OR PIK3CA Q546L OR PIK3CA K111E OR PIK3CA K111N OR PIK3CA K111R OR PIK3CA Q546H	Fulvestrant + Inavolisib + PalbociclibCombination	Predictive	A	Supports Sensitivity Response	3	accepted	EID12536 The phase III INAVO120 trial (NCT04191499) in 325 patients with endocrine-resistant, PIK3CA-mutated HR⁺/HER2⁻ locally advanced or metastatic breast cancer evaluated inavolisib plus palbociclib and ful…

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
45466	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Ovarian neoplasm; Abnormal cardiovascular system morphology; PIK3CA related overgrowth syndrome; Neoplasm; PIK3CA-related disorder	germline/somatic	7	Aug 09, 2023	clinvar