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NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu) AND Benign Soft Tissue Neoplasm of Uncertain Differentiation

Germline classification:
not provided (1 submission)
Last evaluated:
Mar 10, 2016
Review status:
no classification 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:
RCV000435780.1

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:
Benign Soft Tissue Neoplasm of Uncertain Differentiation
Identifiers:
MedGen: C1332517

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000503778Database of Curated Mutations (DoCM)
no classification provided
not providedsomaticliterature 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

The neuroblastoma-associated F1174L ALK mutation causes resistance to an ALK kinase inhibitor in ALK-translocated cancers.

Sasaki T, Okuda K, Zheng W, Butrynski J, Capelletti M, Wang L, Gray NS, Wilner K, Christensen JG, Demetri G, Shapiro GI, Rodig SJ, Eck MJ, Jänne PA.

Cancer Res. 2010 Dec 15;70(24):10038-43. doi: 10.1158/0008-5472.CAN-10-2956. Epub 2010 Oct 28.

PubMed [citation]
PMID:
21030459
PMCID:
PMC3045808

Details of each submission

From Database of Curated Mutations (DoCM), SCV000503778.1

#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: May 7, 2024