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NM_017617.5(NOTCH1):c.4924G>C (p.Asp1642His) AND Non-small cell lung carcinoma

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:
RCV000434852.1

Allele description [Variation Report for NM_017617.5(NOTCH1):c.4924G>C (p.Asp1642His)]

NM_017617.5(NOTCH1):c.4924G>C (p.Asp1642His)

Gene:
NOTCH1:notch receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_017617.5(NOTCH1):c.4924G>C (p.Asp1642His)
HGVS:
  • NC_000009.12:g.136504767C>G
  • NG_007458.1:g.46020G>C
  • NM_017617.5:c.4924G>CMANE SELECT
  • NP_060087.3:p.Asp1642His
  • LRG_1122t1:c.4924G>C
  • LRG_1122:g.46020G>C
  • LRG_1122p1:p.Asp1642His
  • NC_000009.11:g.139399219C>G
Protein change:
D1642H
Links:
dbSNP: rs1057519863
NCBI 1000 Genomes Browser:
rs1057519863
Molecular consequence:
  • NM_017617.5:c.4924G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Non-small cell lung carcinoma (NSCLC)
Synonyms:
Non-small cell lung cancer
Identifiers:
MONDO: MONDO:0005233; MeSH: D002289; MedGen: C0007131; Human Phenotype Ontology: HP:0030358

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000505717Database of Curated Mutations (DoCM)
no classification provided
not providedsomaticliterature only

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Alterations of the Notch pathway in lung cancer.

Westhoff B, Colaluca IN, D'Ario G, Donzelli M, Tosoni D, Volorio S, Pelosi G, Spaggiari L, Mazzarol G, Viale G, Pece S, Di Fiore PP.

Proc Natl Acad Sci U S A. 2009 Dec 29;106(52):22293-8. doi: 10.1073/pnas.0907781106. Epub 2009 Dec 10.

PubMed [citation]
PMID:
20007775
PMCID:
PMC2799768

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505717.1

#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: Jul 16, 2023