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NM_004304.5(ALK):c.3522C>G (p.Phe1174Leu) AND Lung adenocarcinoma

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 26, 2014
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:
RCV000442440.1

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

NM_004304.5(ALK):c.3522C>G (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>G (p.Phe1174Leu)
HGVS:
  • NC_000002.12:g.29220829G>C
  • NG_009445.1:g.705738C>G
  • NM_001353765.2:c.318C>G
  • NM_004304.5:c.3522C>GMANE SELECT
  • NP_001340694.1:p.Phe106Leu
  • NP_004295.2:p.Phe1174Leu
  • LRG_488:g.705738C>G
  • NC_000002.11:g.29443695G>C
  • NM_004304.4:c.3522C>G
  • 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>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004304.5:c.3522C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lung adenocarcinoma
Synonyms:
Adenocarcinoma of lung; Adenocarcinoma of lung, somatic
Identifiers:
MONDO: MONDO:0005061; MeSH: D000077192; MedGen: C0152013; Human Phenotype Ontology: HP:0030078

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000505151Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(Dec 26, 2014) 		somaticliterature only

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mechanisms of acquired crizotinib resistance in ALK-rearranged lung Cancers.

Katayama R, Shaw AT, Khan TM, Mino-Kenudson M, Solomon BJ, Halmos B, Jessop NA, Wain JC, Yeo AT, Benes C, Drew L, Saeh JC, Crosby K, Sequist LV, Iafrate AJ, Engelman JA.

Sci Transl Med. 2012 Feb 8;4(120):120ra17. doi: 10.1126/scitranslmed.3003316. Epub 2012 Jan 25.

PubMed [citation]
PMID:
22277784
PMCID:
PMC3385512

Co-clinical trials demonstrate superiority of crizotinib to chemotherapy in ALK-rearranged non-small cell lung cancer and predict strategies to overcome resistance.

Chen Z, Akbay E, Mikse O, Tupper T, Cheng K, Wang Y, Tan X, Altabef A, Woo SA, Chen L, Reibel JB, Janne PA, Sharpless NE, Engelman JA, Shapiro GI, Kung AL, Wong KK.

Clin Cancer Res. 2014 Mar 1;20(5):1204-1211. doi: 10.1158/1078-0432.CCR-13-1733. Epub 2013 Dec 10.

PubMed [citation]
PMID:
24327273
PMCID:
PMC3947539

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505151.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024