Variant · Snv

PIK3CA H1047Y

CI-VAR-00001876Explore in graph →NP_006209.2:p.His1047TyrNM_006218.3:c.3139C>TClinVar 39705 CIViC 938 rs121913281

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 3 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
Lung Non-Small Cell Carcinoma1
PIK3CA H1047Y	PI103	Predictive	D	Supports Sensitivity Response	—	submitted	EID2376 In H460, a gefitinib-resistant NSCLC cell line that harbors PIK3CA mutations, the dual PI3Kalpha/mTOR inhibitor PI103 reduced cell growth and increased the expression of the tumor suppressor p53 compa… (full text at CIViC) PMID 19513541 · Zou et al., 2009 · Open in CIViC	civic
Malignant Breast Neoplasm2
PIK3CA H1047R OR PIK3CA H1047Y OR PIK3CA H1047L	Alpelisib + FulvestrantCombination	Predictive	A	Supports Sensitivity Response	5	accepted	EID7318 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…

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
39705	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Megalencephaly-capillary malformation-polymicrogyria syndrome; Non-small cell lung carcinoma; Cowden syndrome; Segmental undergrowth associated with mainly venous malformation with capillary component; CLOVES syndrome; PIK3CA related overgrowth syndrome; HEMIFACIAL MYOHYPERPLASIA, SOMATIC; PIK3CA overgrowth syndrome; Inborn genetic diseases; Sialoblastoma; Diffuse midline glioma, H3 K27M-mutant; PIK3CA-related disorder