SH3BP2 NM_001122681.2(SH3BP2):c.239G>A (p.Arg80Gln)

CI-VAR-00050879Explore in graph →p.Arg80GlnNM_001122681.2:c.239G>AClinVar 348568 rs147432096

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
348568	Benign/Likely benign	criteria provided, multiple submitters, no conflicts	2	Fibrous dysplasia of jaw; SH3BP2-related disorder; Intellectual disability; Acute myeloid leukemia	germline	6	Jan 18, 2026	clinvar