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NM_000455.5(STK11):c.440_441del (p.Arg147fs) AND Peutz-Jeghers syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 16, 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:
RCV000656431.1

Allele description [Variation Report for NM_000455.5(STK11):c.440_441del (p.Arg147fs)]

NM_000455.5(STK11):c.440_441del (p.Arg147fs)

Gene:
STK11:serine/threonine kinase 11 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_000455.5(STK11):c.440_441del (p.Arg147fs)
HGVS:
  • NC_000019.10:g.1219389_1219390del
  • NG_007460.2:g.34983_34984del
  • NM_000455.5:c.440_441delMANE SELECT
  • NP_000446.1:p.Arg147fs
  • LRG_319:g.34983_34984del
  • NC_000019.9:g.1219388_1219389del
  • NM_000455.4:c.440_441delGT
  • p.Arg147Leufs*15
Protein change:
R147fs
Links:
dbSNP: rs1555737814
NCBI 1000 Genomes Browser:
rs1555737814
Molecular consequence:
  • NM_000455.5:c.440_441del - 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
SCV000485096Zhongshan School of Medicine, Sun Yat-Sen University
no assertion criteria provided
Pathogenic
(Dec 16, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

A novel mutation in the STK11 gene causes heritable Peutz-Jeghers syndrome - a case report.

Chen JH, Zheng JJ, Guo Q, Liu C, Luo B, Tang SB, Cheng JD, Huang EW.

BMC Med Genet. 2017 Feb 23;18(1):19. doi: 10.1186/s12881-017-0373-z.

PubMed [citation]
PMID:
28231849
PMCID:
PMC5324205

Details of each submission

From Zhongshan School of Medicine, Sun Yat-Sen University, SCV000485096.1

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

Description

Herein we report a Chinese Han kindred with five PJS patients distributed over three generations. Onset for the PJS signs in three of the patients was rarely as early as at birth. We identified a novel heterozygous mutation (c.440_441delGT, p.Arg147Leufs*15) in the gene STK11, causing a short frameshift followed by a deletion of 63% of the amino acids in the STK protein. This mutation co-segregated with the PJS phenotype, and was absent in two hundred unrelated ethnicity-matched controls.

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

Last Updated: Oct 8, 2024