ETV6 P214L

CI-VAR-00003313Explore in graph →CIViC 813

Curated evidence

Evidence by cancer (3 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 1–3 of 3 evidence items across 3 cancer contexts 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
Acute Lymphoblastic Leukemia1
ETV6 P214L	(predisposing)	Predisposing	C	Supports Predisposition	4	submitted	EID1886 Two family pedigrees (one family with three generations and a small 4 member family spanning two generations) are presented. Exome sequencing was performed with 8 individuals from the first family, an… (full text at CIViC) PMID 25807284 · Noetzli et al., 2015 · Open in CIViC	civic
Hematopoietic and Lymphoid Cell Neoplasm1
ETV6 P214L	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID1885 3 members of a small four member pedigree with thrombocytopenia and tendency for hematologic cancer were characterized with an 85 gene panel. Thrombocytopenia associated RUNX1, CEBPA and GATA2 were no… (full text at CIViC) PMID 25581430 ·

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.

Unmapped disease1unmapped disease
ETV6 P214L	(functional)	Functional	D	Supports Dominant Negative	4	submitted	EID10048 HEK293T cells were transfected with wild type (WT) or mutant (P214L, R418G, 385-418del) ETV6 along with a luciferase reporter construct of one of the ETV6 transcriptional target genes (stromelysin-1/M… (full text at CIViC) PMID 25807284 · Noetzli et al., 2015 · Open in CIViC	civic