U.S. flag

An official website of the United States government

NM_000455.5(STK11):c.543C>G (p.Asn181Lys) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 13, 2017
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:
RCV000492674.3

Allele description [Variation Report for NM_000455.5(STK11):c.543C>G (p.Asn181Lys)]

NM_000455.5(STK11):c.543C>G (p.Asn181Lys)

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.543C>G (p.Asn181Lys)
HGVS:
  • NC_000019.10:g.1220451C>G
  • NG_007460.2:g.36045C>G
  • NM_000455.5:c.543C>GMANE SELECT
  • NP_000446.1:p.Asn181Lys
  • NP_000446.1:p.Asn181Lys
  • LRG_319t1:c.543C>G
  • LRG_319:g.36045C>G
  • LRG_319p1:p.Asn181Lys
  • NC_000019.9:g.1220450C>G
  • NM_000455.4:c.543C>G
Protein change:
N181K
Links:
dbSNP: rs730881973
NCBI 1000 Genomes Browser:
rs730881973
Molecular consequence:
  • NM_000455.5:c.543C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000580901Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))		Pathogenic
(Dec 13, 2017) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Somatic mutations in the STK11/LKB1 gene are uncommon in rare gynecological tumor types associated with Peutz-Jegher's syndrome.

Connolly DC, Katabuchi H, Cliby WA, Cho KR.

Am J Pathol. 2000 Jan;156(1):339-45.

PubMed [citation]
PMID:
10623683
PMCID:
PMC1868646

Genotype-phenotype correlations in Peutz-Jeghers syndrome.

Amos CI, Keitheri-Cheteri MB, Sabripour M, Wei C, McGarrity TJ, Seldin MF, Nations L, Lynch PM, Fidder HH, Friedman E, Frazier ML.

J Med Genet. 2004 May;41(5):327-33.

PubMed [citation]
PMID:
15121768
PMCID:
PMC1735760
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV000580901.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (5)

Description

The p.N181K pathogenic mutation (also known as c.543C>G), located in coding exon 4 of the STK11 gene, results from a C to G substitution at nucleotide position 543. The asparagine at codon 181 is replaced by lysine, an amino acid with similar properties. This alteration was identified in an individual suspected of having Peutz-Jeghers syndrome (Ambry internal data). Based on an internal structural assessment, this alteration disrupts the Mg-ATP binding in the active site of STK11 (Zeqiraj E et al. Science, 2009 Dec;326:1707-11; Gerlits O et al. Biochemistry, 2013 May;52:3721-7). Three different alterations at the same codon, p.N181Y, p.N181T, and p.N181E, have either been reported in a patient diagnosed with Peutz-Jeghers syndrome (PJS) (Ylikorkala A et al. Hum. Mol. Genet., 1999 Jan;8:45-51) or in patients suspected of having PJS (Connolly DC et al. Am. J. Pathol., 2000 Jan;156:339-45; Amos CI et al. J. Med. Genet., 2004 May;41:327-33). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024