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.1641+2T>G)

Splice Site (c.1641+2T>G)

CIViC ID: 1681 · Gene: JAK2

Variant Summary

Also known as
F547 SPLICE SITE MUTATION,(C.1641+2T>G) F547 SPLICE SITE
HGVS
NC_000009.11:g.5070054T>G,NM_004972.3:c.1641+2T>G,NP_004963.1:p.=
Variant Type(s)
splice_donor_variant
Evidence Items
1

Evidence Level Distribution

Level C: 1

Evidence Items

Showing CIViC evidence rows where gene = JAK2 and variant = Splice Site (c.1641+2T>G).

LevelTypeDirectionSignificanceDiseaseDrugsRating
CPredictiveSupportsResistanceMelanomaPembrolizumab3