JAK2 Splice Site (c.1641+2T>G)

CI-VAR-00004175Explore in graph →NP_004963.1:p.=NM_004972.3:c.1641+2T>GCIViC 1681

Curated evidence

Evidence by cancer (1 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 1–1 of 1 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
Melanoma1
JAK2 Splice Site (c.1641+2T>G)	Pembrolizumab	Predictive	C	Supports Resistance	3	accepted	EID4825 In a retrospective study of four relapsed, malignant melanoma patients, JAK2 (c.1641+2T>G) F547 splice site mutation was associated with acquired resistance to pembrolizumab monotherapy in one patient… (full text at CIViC) PMID 27433843 · Zaretsky et al., 2016 · Open in CIViC	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.