VHL H115Q (c.345C>G)

CI-VAR-00001885Explore in graph →NP_000542.1:p.His115GlnNM_000551.3:c.345C>GClinVar 496058 CIViC 1957 rs864622646

Curated evidence

Evidence by cancer (8 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 1–8 of 8 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 Disease8unmapped disease
VHL H115Q (c.345C>G)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5274 Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in a VHL type 1 patient (patient no. V48). No… (full text at CIViC) PMID 9829912 · Olschwang et al., 1998 · Open in CIViC	civic
VHL H115Q (c.345C>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5494 Two cases of VHL patients presenting with an endolympathic sac tumor are reported. Genetic testing revealed the above mutation in 1 patient. This patient was positive for a family history of VHL. Addi… (full text at CIViC) PMID 21103895 · Peyre et al., 2011 · 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.