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NM_000455.5(STK11):c.149T>G (p.Leu50Arg) AND Peutz-Jeghers syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 24, 2014
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:
RCV000144661.1

Allele description [Variation Report for NM_000455.5(STK11):c.149T>G (p.Leu50Arg)]

NM_000455.5(STK11):c.149T>G (p.Leu50Arg)

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.149T>G (p.Leu50Arg)
HGVS:
  • NC_000019.10:g.1207062T>G
  • NG_007460.2:g.22656T>G
  • NM_000455.5:c.149T>GMANE SELECT
  • NP_000446.1:p.Leu50Arg
  • NP_000446.1:p.Leu50Arg
  • LRG_319t1:c.149T>G
  • LRG_319:g.22656T>G
  • LRG_319p1:p.Leu50Arg
  • NC_000019.9:g.1207061T>G
  • NM_000455.4:c.149T>G
Protein change:
L50R
Links:
dbSNP: rs587783061
NCBI 1000 Genomes Browser:
rs587783061
Molecular consequence:
  • NM_000455.5:c.149T>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000189990Pathway Genomics
no assertion criteria provided
Uncertain significance
(Jul 24, 2014) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Pathway Genomics, SCV000189990.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024