SMARCA2 R1159Q

CI-VAR-00003628Explore in graph →CIViC 4318

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
Unmapped disease1unmapped disease
SMARCA2 R1159Q	(functional)	Functional	D	Supports Neomorphic	3	accepted	EID11042 SMARCA2 mutations K755R and R1159Q are seen in Nicolaides-Barraitser syndrome (NCBRS) (PMID: 22366787). To evaluate the effects of these mutations, CRISPR/Cas9 was used to introduce heterozygous K755R… (full text at CIViC) PMID 31375262 · Gao et al., 2019 · 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.