NM_000455.5(STK11):c.368A>G (p.Gln123Arg) AND Squamous cell lung carcinoma

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Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 13, 2016
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:: RCV000420556.1

Allele description

NM_000455.5(STK11):c.368A>G (p.Gln123Arg)

Gene:

STK11:serine/threonine kinase 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

Preferred name:

NM_000455.5(STK11):c.368A>G (p.Gln123Arg)

HGVS:

NC_000019.10:g.1218494A>G
NG_007460.2:g.34088A>G
NM_000455.5:c.368A>GMANE SELECT
NP_000446.1:p.Gln123Arg
NP_000446.1:p.Gln123Arg
LRG_319t1:c.368A>G
LRG_319:g.34088A>G
LRG_319p1:p.Gln123Arg
NC_000019.9:g.1218493A>G
NM_000455.4:c.368A>G

Protein change:

Q123R

Links:

dbSNP: rs764449808

NCBI 1000 Genomes Browser:

rs764449808

Molecular consequence:

NM_000455.5:c.368A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Squamous cell lung carcinoma
Synonyms:: Lung cancer, squamous cell, somatic; Squamous cell carcinoma of lung
Identifiers:: MONDO: MONDO:0005097; MedGen: C0149782; Human Phenotype Ontology: HP:0030359

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000510421	Database of Curated Mutations (DoCM)	no assertion criteria provided	Likely pathogenic (May 13, 2016)	somatic	literature only	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000510421

Database of Curated Mutations (DoCM)

no assertion criteria provided

Likely pathogenic
(May 13, 2016)

somatic

literature only

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

LKB1 modulates lung cancer differentiation and metastasis.

Ji H, Ramsey MR, Hayes DN, Fan C, McNamara K, Kozlowski P, Torrice C, Wu MC, Shimamura T, Perera SA, Liang MC, Cai D, Naumov GN, Bao L, Contreras CM, Li D, Chen L, Krishnamurthy J, Koivunen J, Chirieac LR, Padera RF, Bronson RT, et al.

Nature. 2007 Aug 16;448(7155):807-10. Epub 2007 Aug 5.

PubMed [citation]

PMID:: 17676035

Details of each submission

From Database of Curated Mutations (DoCM), SCV000510421.1

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

#	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

Last Updated: Oct 8, 2024

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