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NM_004304.5(ALK):c.3497T>G (p.Met1166Arg) AND Neuroblastoma

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 13, 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:
RCV000422585.1

Allele description [Variation Report for NM_004304.5(ALK):c.3497T>G (p.Met1166Arg)]

NM_004304.5(ALK):c.3497T>G (p.Met1166Arg)

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.3497T>G (p.Met1166Arg)
HGVS:
  • NC_000002.12:g.29222362A>C
  • NG_009445.1:g.704205T>G
  • NM_001353765.2:c.293T>G
  • NM_004304.5:c.3497T>GMANE SELECT
  • NP_001340694.1:p.Met98Arg
  • NP_004295.2:p.Met1166Arg
  • LRG_488:g.704205T>G
  • NC_000002.11:g.29445228A>C
Protein change:
M1166R
Links:
dbSNP: rs1057520019
NCBI 1000 Genomes Browser:
rs1057520019
Molecular consequence:
  • NM_001353765.2:c.293T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004304.5:c.3497T>G - 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
SCV000510430Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(May 13, 2016) 		somaticliterature only

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Identification of ALK as a major familial neuroblastoma predisposition gene.

Mossé YP, Laudenslager M, Longo L, Cole KA, Wood A, Attiyeh EF, Laquaglia MJ, Sennett R, Lynch JE, Perri P, Laureys G, Speleman F, Kim C, Hou C, Hakonarson H, Torkamani A, Schork NJ, Brodeur GM, Tonini GP, Rappaport E, Devoto M, Maris JM.

Nature. 2008 Oct 16;455(7215):930-5. doi: 10.1038/nature07261. Epub 2008 Aug 24.

PubMed [citation]
PMID:
18724359
PMCID:
PMC2672043

Details of each submission

From Database of Curated Mutations (DoCM), SCV000510430.1

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

Last Updated: Apr 23, 2022