CIViC Compass
Research use only — not FDA-cleared, not medical advice. Always consult FDA-approved labeling and a qualified clinician.
CIViC Variants/S80N (c.239G>A)

S80N (c.239G>A)

CIViC ID: 1874 · Gene: VHL

Variant Summary

Also known as
C.239G>A,SER80ASN,RS5030805
HGVS
ENST00000256474.2:c.239G>A,NC_000003.11:g.10183770G>A,NM_000551.3:c.239G>A,NP_000542.1:p.Ser80Asn
Variant Type(s)
missense_variant
Evidence Items
4

Evidence Level Distribution

Level C: 4

Evidence Items

Showing CIViC evidence rows where gene = VHL and variant = S80N (c.239G>A).

LevelTypeDirectionSignificanceDiseaseDrugsRating
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease3
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease3
CPredisposingSupportsUncertain SignificanceRenal Cell Carcinoma2
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease2