ALK R1275Q

CI-VAR-00003643Explore in graph →NP_004295.2:p.Arg1275GlnNM_004304.4:c.3824G>AClinVar 18083 CIViC 9 rs113994087

Curated evidence

Evidence by cancer (10 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 1–10 of 10 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
Malignant Neoplasm1
EML4::ALK Fusion AND ALK R1275Q	Crizotinib	Predictive	D	Does Not Support Resistance	2	submitted	EID11076 In a study for crizotinib resistance mutations in EML4::ALK, the variant R1275 was not found. Due to the frequent occurrence of this variant in cancer, R1275Q was introduced into EML4::ALK plasmid and… (full text at CIViC) PMID 22034911 · Zhang et al., 2011 · Open in CIViC	civic
Neuroblastoma9
ALK R1275Q	(predisposing)	Predisposing	B	Supports Predisposition	5	submitted	EID7571 A genome-wide scan of single nucleotide polymorphisms in twenty neuroblastoma families identified the ALK gene as being disease linked. Sequencing of ALK exons identified 3 mutations, including R1275Q… (full text at CIViC) PMID 18724359 ·

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
18083	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome; Neuroblastoma	germline/somatic	10	Jun 06, 2024	clinvar