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.340+1G>A)

Splice Site (c.340+1G>A)

CIViC ID: 2114 · Gene: VHL

Variant Summary

Also known as
C.340+1G>A,C.553+1G>A
HGVS
NM_000551.3:c.340+1G>A,NC_000003.11:g.10183872G>A,ENST00000256474.2:c.340+1G>A
Variant Type(s)
splice_donor_variant
Evidence Items
6

Evidence Level Distribution

Level C: 6

Evidence Items

Showing CIViC evidence rows where gene = VHL and variant = Splice Site (c.340+1G>A).

LevelTypeDirectionSignificanceDiseaseDrugsRating
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease4
CPredisposingSupportsUncertain SignificanceVon Hippel-Lindau Disease4
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease3
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease3
CPredisposingSupportsUncertain SignificanceVon Hippel-Lindau Disease3
CPredisposingVon Hippel-Lindau Disease3