DICER1 E1705K

CI-VAR-00000673Explore in graph →ENST00000526495.1:c.5113G>ACIViC 2050

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 2 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
Ovarian Gynandroblastoma1
DICER1 E1705K	(diagnostic)	Diagnostic	C	Supports Positive	2	accepted	EID11480 In an analysis of a range of different ovarian sex cord-stromal tumors, 2 of 5 gynandroblastomas were found to have the DICER1 E1705K hotspot mutation supporting a role for DICER1 in a subset of these… (full text at CIViC) PMID 26428316 · Conlon et al., 2015 · Open in CIViC	civic
Ovarian Sertoli-Leydig Cell Tumor2
DICER1 E1705K	(diagnostic)	Diagnostic	B	Supports Positive	4	accepted	EID5533 Sanger sequencing identified DICER1 hotspot mutations in 20 of 32 (63%) ovarian Sertoli–Leydig cell tumors. These mutations were unrelated to tumor differentiation and mostly (16/20, 80%) were E1705K.… (full text at CIViC) PMID 26428316 ·

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.