VHL A56FS (c.164_165insG)

CI-VAR-00000108Explore in graph →NP_000542.1:p.Ala56fsNM_000551.2:c.164_165insGCIViC 771

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 A56FS (c.164_165insG)	(diagnostic)	Diagnostic	B	Supports Positive	5	rejected	EID1855 c.165insG Frameshift This is another family, with a different genetic background (Chinese) with the same mutation and VHL disease. Affected individuals retinal angioma and central nervous PMID 17024664 · Ong et al., 2007 · Open in CIViC	civic
VHL A56FS (c.164_165insG)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID1835 c.164insG causes a framehift and truncation allele. One family is described with this allele segregating with disease; 10 affected individuals: 2 patients with renal cell carcinoma, 3 with pheochromo… (full text at CIViC) PMID 17024664 · Ong et al., 2007 · Open in CIViC	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.