ETV6 R399C

CI-VAR-00003848Explore in graph →NP_001978.1:p.Arg399CysNM_001987.4:c.1195C>TClinVar 162220 CIViC 811 rs724159945

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
Hematopoietic and Lymphoid Cell Neoplasm1
ETV6 R399C	(predisposing)	Predisposing	C	Supports Predisposition	4	submitted	EID1883 Hematologic deficiencies and cancers were found to segregate in a dominant negative fashion with 5 genes discovered by exome sequencing of 5 members of a 10 member pedigree over three generations. Onl… (full text at CIViC) PMID 25581430 · Zhang et al., 2015 · Open in CIViC	civic

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
162220	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Thrombocytopenia; Hematologic neoplasm; Thrombocytopenia 5; ETV6-related disorders	germline	8	Dec 22, 2025	clinvar