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 51–100 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 Disease50unmapped disease
VHL R167Q (c.500G>A)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8447 Two patients from a cohort of fifteen Dutch patients from five different families were found to harbour the VHL germline mutation R238Q. Patien 10, a 40 year old male, presented with pancreatic and ki… (full text at CIViC) PMID 9402176 · Los et al., 1997 · Open in CIViC	civic
VHL R167Q (c.500G>A)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8449 At age 14 the patient presented with a pancreatic neuroendocrine tumor that was resected. At age 19 she had hemangiomas of the fourth ventricle and cervical spinal cord which were operated. At age 27 … (full text at CIViC) PMID 26192301 · Maeda et al., 2009 · 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