VHL Q96_P97delinsH (c.288_290del)

CI-VAR-00003600Explore in graph →NP_000542.1:p.Gln96_Pro97delinsHisNM_000551.3:c.288_290delCIViC 3246

Curated evidence

Evidence by cancer (3 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 1–3 of 3 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 Disease3unmapped disease
VHL Q96_P97delinsH (c.288_290del)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID8999 Germline mutations in 45 unrelated Japanese VHL patients were determined from blood samples using PCR-SSCP or Southern blot analyses. The authors used the 284 codon ORF previously described by Latif e… (full text at CIViC) PMID 8634692 · 1995 · Open in CIViC	civic
VHL Q96_P97delinsH (c.288_290del)	(predisposing)	Predisposing	C	Supports Predisposition	3	rejected	EID10553 A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · 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.