VHL R167Q (c.500G>A)

CI-VAR-00003705Explore in graph →NP_000542.1:p.Arg167GlnNM_000551.3:c.500G>AClinVar 2216 CIViC 1739 rs5030821

Curated evidence

Evidence by cancer (101 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 101–101 of 101 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 Disease1unmapped disease
VHL R167Q (c.500G>A) AND VHL T105M (c.314C>T)	(predisposing)	Predisposing	C	Supports Predisposition	1	submitted	EID10640 This paper presents a case report of a 42-year-old woman. Using the TruSeq Amplicon Cancer Panel to sequence the patient's tumor specimen, it was found that the patient had a somatic VHL mutation at … (full text at CIViC) PMID 28006088 · Berger et al., 2017 · 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
2216	Pathogenic	reviewed by expert panel	3	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Pheochromocytoma	germline	20	Jun 25, 2024	clinvar