PIK3R1 NM_181523.3(PIK3R1):c.1300-2A>G

CI-VAR-00144208Explore in graph →NM_181523.3:c.1300-2A>GClinVar 827732 rs1403833564

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
827732	Likely pathogenic	reviewed by expert panel	3	Inherited Immunodeficiency Diseases; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 with lymphoproliferation; SHORT syndrome; Squamous cell lung carcinoma; Lymphoma; PIK3R1-related immunodeficiency and SHORT syndrome	germline	5	May 19, 2026	clinvar