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NM_000455.5(STK11):c.862+1G>A AND Peutz-Jeghers syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 8, 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:
RCV003316947.1

Allele description [Variation Report for NM_000455.5(STK11):c.862+1G>A]

NM_000455.5(STK11):c.862+1G>A

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.862+1G>A
HGVS:
  • NC_000019.10:g.1221341G>A
  • NG_007460.2:g.36935G>A
  • NM_000455.5:c.862+1G>AMANE SELECT
  • NM_001407255.1:c.862+1G>A
  • LRG_319:g.36935G>A
  • NC_000019.9:g.1221340G>A
Molecular consequence:
  • NM_000455.5:c.862+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407255.1:c.862+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV004019844Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Feb 8, 2023) 		unknownclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome.

Huang Z, Miao S, Wang L, Zhang P, Wu B, Wu J, Huang Y.

BMC Gastroenterol. 2015 Nov 25;15:166. doi: 10.1186/s12876-015-0397-9.

PubMed [citation]
PMID:
26607058
PMCID:
PMC4659168

Clinical characteristics and genetic analysis of gene mutations in a Chinese pedigree with Peutz-Jeghers syndrome.

Qiu Y, Xuan T, Yin M, Gao Z, Guo P, Chen X, Ye Y, Shen Z.

Clin Case Rep. 2019 Apr;7(4):735-739. doi: 10.1002/ccr3.2073.

PubMed [citation]
PMID:
30997075
PMCID:
PMC6452494
See all PubMed Citations (3)

Details of each submission

From Myriad Genetics, Inc., SCV004019844.1

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

Description

This variant is considered pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 26607058, 30997075, 35189935].

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

Last Updated: Oct 8, 2024