NM_000455.4(STK11):c.418delC (p.Leu140Trpfs) AND Peutz-Jeghers syndrome

Clinical significance:Pathogenic (Last evaluated: Dec 1, 1998)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000007875.5

Allele description [Variation Report for NM_000455.4(STK11):c.418delC (p.Leu140Trpfs)]

NM_000455.4(STK11):c.418delC (p.Leu140Trpfs)

Gene:
STK11:serine/threonine kinase 11 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_000455.4(STK11):c.418delC (p.Leu140Trpfs)
HGVS:
  • NC_000019.10:g.1219367delC
  • NG_007460.2:g.34961delC
  • NM_000455.4:c.418delC
  • NP_000446.1:p.Leu140Trpfs
  • LRG_319t1:c.418delC
  • LRG_319:g.34961delC
  • LRG_319p1:p.Leu140Trpfs
  • NC_000019.9:g.1219366delC
Links:
OMIM: 602216.0012; dbSNP: 397518440
NCBI 1000 Genomes Browser:
rs397518440
Molecular consequence:
  • NM_000455.4:c.418delC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Peutz-Jeghers syndrome (PJS)
Identifiers:
MedGen: C0031269; Orphanet: 2869; OMIM: 175200
Age of onset:
Adolescent
Prevalence:
1-9 / 100 000 2869

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000028080OMIMno assertion criteria providedPathogenic
(Dec 1, 1998)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance.

JEGHERS H, McKUSICK VA, KATZ KH.

N Engl J Med. 1949 Dec 29;241(26):1031-6. No abstract available.

PubMed [citation]
PMID:
15398245

Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome.

Gruber SB, Entius MM, Petersen GM, Laken SJ, Longo PA, Boyer R, Levin AM, Mujumdar UJ, Trent JM, Kinzler KW, Vogelstein B, Hamilton SR, Polymeropoulos MH, Offerhaus GJ, Giardiello FM.

Cancer Res. 1998 Dec 1;58(23):5267-70.

PubMed [citation]
PMID:
9850045

Details of each submission

From OMIM, SCV000028080.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In the family with Peutz-Jeghers syndrome (175200) originally studied by McKusick, who contributed to the publication of Jeghers et al. (1949), Gruber et al. (1998) found linkage to 19p13.3. By sequencing genomic DNA they identified a 1407delC germline mutation in the STK11 gene. Three affected family members were found to be heterozygous for the mutation, and 3 unaffected individuals carried 2 wildtype alleles.

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

Last Updated: Dec 6, 2016