NM_000455.4(STK11):c.924G>C (p.Trp308Cys) AND Peutz-Jeghers syndrome

Clinical significance:Likely pathogenic (Last evaluated: May 13, 2016)

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:
RCV000435765.1

Allele description [Variation Report for NM_000455.4(STK11):c.924G>C (p.Trp308Cys)]

NM_000455.4(STK11):c.924G>C (p.Trp308Cys)

Gene:
STK11:serine/threonine kinase 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_000455.4(STK11):c.924G>C (p.Trp308Cys)
HGVS:
  • NC_000019.10:g.1222988G>C
  • NG_007460.2:g.38582G>C
  • NM_000455.4:c.924G>C
  • NP_000446.1:p.Trp308Cys
  • LRG_319t1:c.924G>C
  • LRG_319:g.38582G>C
  • LRG_319p1:p.Trp308Cys
  • NC_000019.9:g.1222987G>C
Protein change:
W308C
Links:
dbSNP: rs1057520042
NCBI 1000 Genomes Browser:
rs1057520042
Molecular consequence:
  • NM_000455.4:c.924G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Peutz-Jeghers syndrome (PJS)
Identifiers:
MeSH: D010580; MedGen: C0031269; Orphanet: 2869; OMIM: 175200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000510526Database of Curated Mutations (DoCM)no assertion criteria providedLikely pathogenic
(May 13, 2016)
somaticliterature only

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity.

Mehenni H, Gehrig C, Nezu J, Oku A, Shimane M, Rossier C, Guex N, Blouin JL, Scott HS, Antonarakis SE.

Am J Hum Genet. 1998 Dec;63(6):1641-50.

PubMed [citation]
PMID:
9837816
PMCID:
PMC1377635

Details of each submission

From Database of Curated Mutations (DoCM), SCV000510526.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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