PIK3R1 NM_181523.3(PIK3R1):c.1299+2T>C

CI-VAR-00203703Explore in graph →NM_181523.3:c.1299+2T>CClinVar 1338736 rs2112260009

Curated evidence

Evidence by cancer (0 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.

Data not yet available

No curated evidence item references this variant yet.

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
1338736	Likely pathogenic	reviewed by expert panel	3	PIK3R1-related immunodeficiency and SHORT syndrome; Uterine corpus endometrial carcinoma	germline	3	May 19, 2026	clinvar