STAT1 NM_007315.4(STAT1):c.1314A>G (p.Gln438=)

CI-VAR-00050443Explore in graph →p.Gln438=NM_007315.4:c.1314A>GClinVar 333274 rs138091660

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
333274	Benign/Likely benign	criteria provided, multiple submitters, no conflicts	2	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency; Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Uterine corpus endometrial carcinoma; Hepatocellular carcinoma; Malignant tumor of esophagus	germline	5	Jan 02, 2026	clinvar