VHL D121Mfs*38 (c.361delG)

CI-VAR-00000408Explore in graph →NP_000542.1:p.Asp121MetfsTerNM_000551.3:c.361delGCIViC 2446

Curated evidence

Evidence by cancer (2 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 1–2 of 2 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
Von Hippel-Lindau Disease2unmapped disease
VHL D121Mfs*38 (c.361delG)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6541 A retrospective cohort study was conducted at a public children’s hospital (Buenos Aires, Argentina). Eligible patients were all index cases with clinical diagnosis or clinical suspicion of type 1 VHL… (full text at CIViC) PMID 27617348 · Mathó et al., 2016 · Open in CIViC	civic
VHL D121Mfs*38 (c.361delG)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID10109 In a study of 138 unrelated VHL families, 109 germline mutations were found. Missense mutations were more frequently found in families with pheochromocytoma (PC). Deletions, nonsense, and frameshift m… (full text at CIViC) PMID 8730290 · Maher et al., 1996 · Open in CIViC

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.