CIViC Compass
Research use only — not FDA-cleared, not medical advice. Always consult FDA-approved labeling and a qualified clinician.
CIViC Variants/Splice Site (c.463+2T>C)

Splice Site (c.463+2T>C)

CIViC ID: 2075 · Gene: VHL

Variant Summary

Also known as
C.463+2T>C,RS5030814
HGVS
NM_000551.3:c.463+2T>C,NC_000003.11:g.10188322T>C,ENST00000256474.2:c.463+2T>C,NP_000542.1:p.?,NC_000003.12:g.10146638T>C
Variant Type(s)
splice_donor_variant
Evidence Items
4

Evidence Level Distribution

Level C: 4

Evidence Items

Showing CIViC evidence rows where gene = VHL and variant = Splice Site (c.463+2T>C).

LevelTypeDirectionSignificanceDiseaseDrugsRating
CPredisposingSupportsUncertain SignificanceVon Hippel-Lindau Disease3
CPredisposingSupportsUncertain SignificanceVon Hippel-Lindau Disease3
CPredisposingSupportsUncertain SignificanceVon Hippel-Lindau Disease3
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease2