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NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu) AND Neuroblastoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 10, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000444781.1

Allele description [Variation Report for NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu)]

NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu)

Gene:
ALK:ALK receptor tyrosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.2
Genomic location:
Preferred name:
NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu)
HGVS:
  • NC_000002.12:g.29220829G>T
  • NG_009445.1:g.705738C>A
  • NM_001353765.2:c.318C>A
  • NM_004304.5:c.3522C>AMANE SELECT
  • NP_001340694.1:p.Phe106Leu
  • NP_004295.2:p.Phe1174Leu
  • LRG_488:g.705738C>A
  • NC_000002.11:g.29443695G>T
  • NM_004304.4:c.3522C>A
  • Q9UM73:p.Phe1174Leu
Protein change:
F106L
Links:
UniProtKB: Q9UM73#VAR_063857; dbSNP: rs863225281
NCBI 1000 Genomes Browser:
rs863225281
Molecular consequence:
  • NM_001353765.2:c.318C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004304.5:c.3522C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neuroblastoma (NB)
Identifiers:
MONDO: MONDO:0005072; MeSH: D009447; MedGen: C0027819; Orphanet: 635; Human Phenotype Ontology: HP:0003006

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000503776Database of Curated Mutations (DoCM)
no assertion criteria provided
Pathogenic
(Mar 10, 2016) 		somaticliterature only

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

CH5424802, a selective ALK inhibitor capable of blocking the resistant gatekeeper mutant.

Sakamoto H, Tsukaguchi T, Hiroshima S, Kodama T, Kobayashi T, Fukami TA, Oikawa N, Tsukuda T, Ishii N, Aoki Y.

Cancer Cell. 2011 May 17;19(5):679-90. doi: 10.1016/j.ccr.2011.04.004.

PubMed [citation]
PMID:
21575866

Activating ALK mutations found in neuroblastoma are inhibited by Crizotinib and NVP-TAE684.

Schönherr C, Ruuth K, Yamazaki Y, Eriksson T, Christensen J, Palmer RH, Hallberg B.

Biochem J. 2011 Dec 15;440(3):405-13. doi: 10.1042/BJ20101796.

PubMed [citation]
PMID:
21838707
See all PubMed Citations (5)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000503776.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024