GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)

CI-VAR-00032292Explore in graph →p.Ile80ThrNM_002074.5:c.239T>CClinVar 208722 rs752746786

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
208722	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Inborn genetic diseases; Intellectual disability, autosomal dominant 42; Myelodysplastic syndrome; Neurodevelopmental Disability; Seizure; Hypotonia; LEUKEMIA, CHRONIC LYMPHOCYTIC, SOMATIC; Neurodevelopmental disorder; Global developmental delay; Neurodevelopmental abnormality; Cerebral palsy; Intellectual disability; Neurodevelopmental delay; Acute lymphoid leukemia; GNB1-related disorder	germline/somatic	34	Dec 11, 2025	clinvar