VHL R167Q (c.500G>A) and I151N (c.452T>A)

CI-VAR-00003706Explore in graph →CIViC 4167

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 R167Q (c.500G>A) and I151N (c.452T>A)	(predisposing)	Predisposing	C	Supports Predisposition	1	submitted	EID10641 A 40-year-old Caucasian female from Slovenia was found to have a somatic mutation in VHL, c.500G>A (R167Q), found by testing the patient's extraneuraxial hemangioblastoma tissue and a germline mutatio… (full text at CIViC) PMID 29941223 · Muscarella et al., 2018 · Open in CIViC	civic
VHL R167Q (c.500G>A) and I151N (c.452T>A)	(predisposing)	Predisposing	C	Supports Predisposition	1	submitted	EID10642 A 40-year old Caucasian female from Slovenia was found to have a missense germline mutation in VHL, c.452T>A (p.Ile151Asn). The patient's extraneuraxial hemangioblastoma tissue was also tested for som… (full text at CIViC) PMID 29941223 · Muscarella et al., 2018 · 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.