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NC_000019.9:g.(?_1218406)_(1218509_?)del AND Peutz-Jeghers syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 5, 2020
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:
RCV001384398.8

Allele description [Variation Report for NC_000019.9:g.(?_1218406)_(1218509_?)del]

NC_000019.9:g.(?_1218406)_(1218509_?)del

Gene:
STK11:serine/threonine kinase 11 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19p13.3
Genomic location:
Chr19: 1218406 - 1218509 (on Assembly GRCh37)
Preferred name:
NC_000019.9:g.(?_1218406)_(1218509_?)del
HGVS:
NC_000019.9:g.(?_1218406)_(1218509_?)del

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
SCV001583867Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Feb 5, 2020) 		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

Large deletions and splicing-site mutations in the STK11 gene in Peutz-Jeghers Chilean families.

Orellana P, López-Köstner F, Heine C, Suazo C, Pinto E, Church J, Carvallo P, Alvarez K.

Clin Genet. 2013 Apr;83(4):365-9. doi: 10.1111/j.1399-0004.2012.01928.x. Epub 2012 Aug 7.

PubMed [citation]
PMID:
22775437

Genetic defects underlying Peutz-Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates.

de Leng WW, Jansen M, Carvalho R, Polak M, Musler AR, Milne AN, Keller JJ, Menko FH, de Rooij FW, Iacobuzio-Donahue CA, Giardiello FM, Weterman MA, Offerhaus GJ.

Clin Genet. 2007 Dec;72(6):568-73. Epub 2007 Oct 9.

PubMed [citation]
PMID:
17924967
PMCID:
PMC2714539
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001583867.5

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

Description

For these reasons, this variant has been classified as Pathogenic. Similar deletions of exon 2 have been observed in individual(s) with Peutz-Jeghers syndrome (PMID: 22775437, 17924967). It has also been observed to segregate with disease in related individuals. This variant is an in-frame deletion of the genomic region encompassing exon 2 of the STK11 gene. It preserves the integrity of the reading frame.

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

Last Updated: Oct 8, 2024