U.S. flag

An official website of the United States government

NM_000455.5(STK11):c.924G>A (p.Trp308Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 6, 2023
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:
RCV004518467.1

Allele description [Variation Report for NM_000455.5(STK11):c.924G>A (p.Trp308Ter)]

NM_000455.5(STK11):c.924G>A (p.Trp308Ter)

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.924G>A (p.Trp308Ter)
HGVS:
  • NC_000019.10:g.1222988G>A
  • NG_007460.2:g.38582G>A
  • NG_197316.1:g.43G>A
  • NM_000455.5:c.924G>AMANE SELECT
  • NM_001407255.1:c.924G>A
  • NP_000446.1:p.Trp308Ter
  • NP_000446.1:p.Trp308Ter
  • NP_001394184.1:p.Trp308Ter
  • LRG_319t1:c.924G>A
  • LRG_319:g.38582G>A
  • LRG_319p1:p.Trp308Ter
  • NC_000019.9:g.1222987G>A
  • NM_000455.4:c.924G>A
  • NR_176325.1:n.2191G>A
Protein change:
W308*
Molecular consequence:
  • NR_176325.1:n.2191G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000455.5:c.924G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407255.1:c.924G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV005035555Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Oct 6, 2023) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study.

Resta N, Pierannunzio D, Lenato GM, Stella A, Capocaccia R, Bagnulo R, Lastella P, Susca FC, Bozzao C, Loconte DC, Sabbà C, Urso E, Sala P, Fornasarig M, Grammatico P, Piepoli A, Host C, Turchetti D, Viel A, Memo L, Giunti L, Stigliano V, et al.

Dig Liver Dis. 2013 Jul;45(7):606-11. doi: 10.1016/j.dld.2012.12.018. Epub 2013 Feb 15.

PubMed [citation]
PMID:
23415580

The altered activity of P53 signaling pathway by STK11 gene mutations and its cancer phenotype in Peutz-Jeghers syndrome.

Jiang YL, Zhao ZY, Li BR, Yang F, Li J, Jin XW, Wang H, Yu ED, Sun SH, Ning SB.

BMC Med Genet. 2018 Aug 9;19(1):141. doi: 10.1186/s12881-018-0626-5.

PubMed [citation]
PMID:
30092773
PMCID:
PMC6085611
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV005035555.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The p.W308* pathogenic mutation (also known as c.924G>A), located in coding exon 8 of the STK11 gene, results from a G to A substitution at nucleotide position 924. This changes the amino acid from a tryptophan to a stop codon within coding exon 8. This mutation has been reported in several individuals with clinical diagnoses or features of Peutz-Jeghers syndrome (PJS) (Resta N et al. Dig Liver Dis, 2013 Jul;45:606-11; Jiang YL et al. BMC Med Genet, 2018 Aug;19:141; Liu Q et al. Diagn Pathol, 2022 Dec;17:96). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024