PTPN11 NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)

CI-VAR-00006191Explore in graph →p.Asn308AspNM_002834.5:c.922A>GClinVar 13326 rs28933386

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
13326	Pathogenic	reviewed by expert panel	3	Noonan syndrome 1; RASopathy; Noonan syndrome; LEOPARD syndrome 1; Cardiovascular phenotype; Juvenile myelomonocytic leukemia; Metachondromatosis; Abnormal bleeding; Thrombocytopenia; Hereditary cancer-predisposing syndrome; Noonan syndrome and Noonan-related syndrome; PTPN11-related disorder; Male infertility with azoospermia or oligozoospermia due to single gene mutation; Diffuse glioma, H3 G34 mutant	germline/somatic	77	Apr 03, 2017	clinvar