PTPN11 R351Q

CI-VAR-00003834Explore in graph →NP_002825.3:p.Arg351GlnNM_002834.5:c.1052G>AClinVar 40541 CIViC 5476 rs397507534

Curated evidence

Evidence by cancer (1 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.

civicCuratedShowing 1–1 of 1 evidence items across 1 cancer context on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Malignant Neoplasm1
PTPN11 R351Q	(oncogenic)	Oncogenic	E	Does Not Support Oncogenicity	5	submitted	EID12992 For the PTPN11 R351Q variant, the South Asian allele frequency of 0.003712 is ≥ 0.0005 (based on gnomAD v4.1.0 (non-UKB)). The total Grpmax filtering allele frequency is not listed in gnomAD v4.1.0 (n… (full text at CIViC) PMID 34859531 · Gudmundsson et al., 2022 · Open in CIViC	civic

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
40541	Benign	reviewed by expert panel	3	RASopathy; Cardiovascular phenotype; Juvenile myelomonocytic leukemia; PTPN11-related disorder; Metachondromatosis	germline	8	Apr 18, 2017	clinvar