NM_000455.4(STK11):c.108C>A (p.Tyr36Ter) AND Carcinoma of pancreas

Clinical significance:Pathogenic (Last evaluated: Jun 1, 1999)

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:
RCV000007878.8

Allele description [Variation Report for NM_000455.4(STK11):c.108C>A (p.Tyr36Ter)]

NM_000455.4(STK11):c.108C>A (p.Tyr36Ter)

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.108C>A (p.Tyr36Ter)
HGVS:
  • NC_000019.10:g.1207021C>A
  • NG_007460.2:g.22615C>A
  • NM_000455.4:c.108C>A
  • NP_000446.1:p.Tyr36Ter
  • LRG_319t1:c.108C>A
  • LRG_319:g.22615C>A
  • LRG_319p1:p.Tyr36Ter
  • NC_000019.9:g.1207020C>A
  • NG_007460.1:g.6223C>A
Protein change:
Y36*; TYR36TER
Links:
OMIM: 602216.0015; dbSNP: 137853079
NCBI 1000 Genomes Browser:
rs137853079
Molecular consequence:
  • NM_000455.4:c.108C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Carcinoma of pancreas
Synonyms:
PANCREATIC ACINAR CARCINOMA; PANCREATIC CARCINOMA; Pancreatic cancer, somatic; See all synonyms [MedGen]
Identifiers:
MedGen: C0235974; Orphanet: 1333; OMIM: 260350
Age of onset:
Adult
Prevalence:
1-9 / 1 000 000 1333

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000028083OMIMno assertion criteria providedPathogenic
(Jun 1, 1999)
somaticliterature only

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

Summary from all submissions

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

Citations

PubMed

Germline and somatic mutations of the STK11/LKB1 Peutz-Jeghers gene in pancreatic and biliary cancers.

Su GH, Hruban RH, Bansal RK, Bova GS, Tang DJ, Shekher MC, Westerman AM, Entius MM, Goggins M, Yeo CJ, Kern SE.

Am J Pathol. 1999 Jun;154(6):1835-40.

PubMed [citation]
PMID:
10362809
PMCID:
PMC1866632

Details of each submission

From OMIM, SCV000028083.4

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

Description

In a series of pancreatic cancers with loss of heterozygosity (LOH), Su et al. (1999) found that 3 had mutations in the STK11 gene: 1 nonsense and 2 frameshift mutations. The nonsense mutation, tyr36 to ter, which occurred in exon 1, and 1 of the frameshift mutations (602216.0016), which occurred in exon 5, were within the catalytic kinase domain of STK11 (codons 37 to 314).

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

Last Updated: Aug 12, 2016