NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro) AND Non-small cell lung carcinoma

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 24, 2011
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000418731.10

Allele description [Variation Report for NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro)]

NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro)

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.167A>C (p.Gln56Pro)

HGVS:

NC_000015.10:g.66435113A>C
NG_008305.1:g.53241A>C
NM_002755.4:c.167A>CMANE SELECT
NP_002746.1:p.Gln56Pro
NP_002746.1:p.Gln56Pro
LRG_725t1:c.167A>C
LRG_725:g.53241A>C
LRG_725p1:p.Gln56Pro
NC_000015.9:g.66727451A>C
NM_002755.3:c.167A>C

Protein change:

Q56P; GLN56PRO

Links:

OMIM: 176872.0006; dbSNP: rs1057519729

NCBI 1000 Genomes Browser:

rs1057519729

Molecular consequence:

NM_002755.4:c.167A>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000504532	Database of Curated Mutations (DoCM)	no assertion criteria provided	Pathogenic (Jul 14, 2015)	somatic	literature only	PubMed (3) [See all records that cite these PMIDs] 18632602, 7651428, 25157968 Citation Link,
SCV004847497	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 24, 2011)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 18632602, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000504532

Database of Curated Mutations (DoCM)

no assertion criteria provided

Pathogenic
(Jul 14, 2015)

somatic

literature only

PubMed (3)
[See all records that cite these PMIDs]

Citation Link,

SCV004847497

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 24, 2011)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

RAS signalling is abnormal in a c-raf1 MEK1 double mutant.

Bottorff D, Stang S, Agellon S, Stone JC.

Mol Cell Biol. 1995 Sep;15(9):5113-22.

PubMed [citation]

PMID:: 7651428
PMCID:: PMC230758

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

MacConaill LE, Garcia E, Shivdasani P, Ducar M, Adusumilli R, Breneiser M, Byrne M, Chung L, Conneely J, Crosby L, Garraway LA, Gong X, Hahn WC, Hatton C, Kantoff PW, Kluk M, Kuo F, Jia Y, Joshi R, Longtine J, Manning A, Palescandolo E, et al.

J Mol Diagn. 2014 Nov;16(6):660-72. doi: 10.1016/j.jmoldx.2014.06.004. Epub 2014 Aug 23.

PubMed [citation]

PMID:: 25157968
PMCID:: PMC4210463

See all PubMed Citations (4)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504532.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV004847497.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The MEK1 Gln56Pro variant has been previously reported in a NSCLC cell line (Marks 2008).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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