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NM_000455.5(STK11):c.965dup (p.Pro324fs) AND Peutz-Jeghers syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 28, 2019
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:
RCV000815167.6

Allele description [Variation Report for NM_000455.5(STK11):c.965dup (p.Pro324fs)]

NM_000455.5(STK11):c.965dup (p.Pro324fs)

Gene:
STK11:serine/threonine kinase 11 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_000455.5(STK11):c.965dup (p.Pro324fs)
HGVS:
  • NC_000019.10:g.1223029dup
  • NG_007460.2:g.38623dup
  • NM_000455.5:c.965dupMANE SELECT
  • NP_000446.1:p.Pro324fs
  • LRG_319t1:c.965dup
  • LRG_319:g.38623dup
  • NC_000019.9:g.1223027_1223028insT
  • NC_000019.9:g.1223028dup
  • NM_000455.4:c.965dup
  • NM_000455.4:c.965dupT
Protein change:
P324fs
Links:
dbSNP: rs1599929339
NCBI 1000 Genomes Browser:
rs1599929339
Molecular consequence:
  • NM_000455.5:c.965dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Peutz-Jeghers syndrome (PJS)
Synonyms:
POLYPOSIS, HAMARTOMATOUS INTESTINAL; POLYPS-AND-SPOTS SYNDROME; Peutz-Jeghers polyposis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008280; MeSH: D010580; MedGen: C0031269; Orphanet: 2869; OMIM: 175200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000955614Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jun 28, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Relative frequency and morphology of cancers in STK11 mutation carriers.

Lim W, Olschwang S, Keller JJ, Westerman AM, Menko FH, Boardman LA, Scott RJ, Trimbath J, Giardiello FM, Gruber SB, Gille JJ, Offerhaus GJ, de Rooij FW, Wilson JH, Spigelman AD, Phillips RK, Houlston RS.

Gastroenterology. 2004 Jun;126(7):1788-94.

PubMed [citation]
PMID:
15188174

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.

Aretz S, Stienen D, Uhlhaas S, Loff S, Back W, Pagenstecher C, McLeod DR, Graham GE, Mangold E, Santer R, Propping P, Friedl W.

Hum Mutat. 2005 Dec;26(6):513-9.

PubMed [citation]
PMID:
16287113
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000955614.6

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

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). This variant has not been reported in the literature in individuals with STK11-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro324Thrfs*36) in the STK11 gene. It is expected to result in an absent or disrupted protein product.

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

Last Updated: Oct 8, 2024