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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000503776	Database of Curated Mutations (DoCM)	no assertion criteria provided	Pathogenic (Mar 10, 2016)	somatic	literature only	PubMed (5) [See all records that cite these PMIDs] 21575866, 21838707, 22072639, 18923525, 21948233 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000503776

Database of Curated Mutations (DoCM)

no assertion criteria provided

Pathogenic
(Mar 10, 2016)

somatic

literature only

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	literature 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (5)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

ClinVar

Relating variation to medicine