VHL G104A (c.311G>C)

CI-VAR-00001556Explore in graph →NP_000542.1:p.Gly104AlaNM_000551.3:c.311G>CClinVar 411966 CIViC 2043 rs869025630

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 G104A (c.311G>C)	(predisposing)	Predisposing	C	Supports Predisposition	4	accepted	EID5512 A study of 103 patients with VHL retinal manifestations and 108 patients without VHL retinal manifestations extracted from the French VHL database revealed that the number of hemangioblastomas appeare… (full text at CIViC) PMID 12202531 · Dollfus et al., 2002 · Open in CIViC	civic
VHL G104A (c.311G>C)	(predisposing)	Predisposing	C	N/A N/A	2	accepted	EID6109 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 the germline of a female patient (patient … (full text at CIViC) PMID 9829912 · Olschwang et al., 1998 · 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
411966	Uncertain significance	criteria provided, single submitter	1	Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	1	Apr 09, 2019	clinvar