NF2 c.1396C>T

CI-VAR-00004892Explore in graph →CIViC 3002

Curated evidence

Evidence by cancer (2 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 1–2 of 2 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
Adult Spinal Cord Ependymoma2
NF2 c.1396C>T	(diagnostic)	Diagnostic	B	Supports Positive	3	submitted	EID8066 Single strand conformation polymorphism and sequencing was used on human tumors to determine tumor NF2 genotype. This is a nonsense mutation. PMID 10433955 · Ebert et al., 1999 · Open in CIViC	civic
NF2 c.1396C>T	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID8067 Blood or tumor specimens of 37 unrelated adult patients with ependymomas related to neurofibromatosis Type 2 (NF2) underwent sequencing of the NF2 gene to reveal germline variants. Overall, 64% were f… (full text at CIViC) PMID 21294614 · Plotkin et al., 2011 · 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.