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NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) AND Non-small cell lung carcinoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 2, 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:
RCV000439184.9

Allele description [Variation Report for NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)]

NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)

Gene:
MAP2K1:mitogen-activated protein kinase kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.31
Genomic location:
Preferred name:
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)
Other names:
p.D67N:GAC>AAC; NM_002755.3(MAP2K1):c.199G>A
HGVS:
  • NC_000015.10:g.66435145G>A
  • NG_008305.1:g.53273G>A
  • NM_002755.4:c.199G>AMANE SELECT
  • NP_002746.1:p.Asp67Asn
  • NP_002746.1:p.Asp67Asn
  • LRG_725t1:c.199G>A
  • LRG_725:g.53273G>A
  • LRG_725p1:p.Asp67Asn
  • NC_000015.9:g.66727483G>A
  • NM_002755.3:c.199G>A
Protein change:
D67N
Links:
dbSNP: rs727504317
NCBI 1000 Genomes Browser:
rs727504317
Molecular consequence:
  • NM_002755.4:c.199G>A - 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
SCV000504537Database of Curated Mutations (DoCM)
no assertion criteria provided
Pathogenic
(Oct 2, 2014) 		somaticliterature only

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy.

Estep AL, Palmer C, McCormick F, Rauen KA.

PLoS One. 2007 Dec 5;2(12):e1279.

PubMed [citation]
PMID:
18060073
PMCID:
PMC2093994

Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma.

Marks JL, Gong Y, Chitale D, Golas B, McLellan MD, Kasai Y, Ding L, Mardis ER, Wilson RK, Solit D, Levine R, Michel K, Thomas RK, Rusch VW, Ladanyi M, Pao W.

Cancer Res. 2008 Jul 15;68(14):5524-8. doi: 10.1158/0008-5472.CAN-08-0099.

PubMed [citation]
PMID:
18632602
PMCID:
PMC2586155

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504537.1

#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: Oct 26, 2024