NM_000455.5(STK11):c.108C>A (p.Tyr36Ter) AND Carcinoma of pancreas

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 1999
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:: RCV000007878.8

Allele description [Variation Report for NM_000455.5(STK11):c.108C>A (p.Tyr36Ter)]

NM_000455.5(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_000455.5(STK11):c.108C>A (p.Tyr36Ter)

HGVS:

NC_000019.10:g.1207021C>A
NG_007460.2:g.22615C>A
NM_000455.5:c.108C>AMANE SELECT
NP_000446.1:p.Tyr36Ter
LRG_319:g.22615C>A
NC_000019.9:g.1207020C>A

Protein change:

Y36*; TYR36TER

Links:

OMIM: 602216.0015; dbSNP: rs137853079

NCBI 1000 Genomes Browser:

rs137853079

Molecular consequence:

NM_000455.5: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:: MONDO: MONDO:0005192; MeSH: C562463; MedGen: C0235974; Orphanet: 1333; OMIM: 260350

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000028083	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 1999)	somatic	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000028083

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 1999)

somatic

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	not provided	not provided	not provided	not provided	not provided	not provided	literature 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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