NM_000455.5(STK11):c.134_145del (p.Leu45_Tyr49delinsHis) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 27, 2013
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:: RCV000160967.1

Allele description [Variation Report for NM_000455.5(STK11):c.134_145del (p.Leu45_Tyr49delinsHis)]

NM_000455.5(STK11):c.134_145del (p.Leu45_Tyr49delinsHis)

Gene:

STK11:serine/threonine kinase 11 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19p13.3

Genomic location:

Preferred name:

NM_000455.5(STK11):c.134_145del (p.Leu45_Tyr49delinsHis)

HGVS:

NC_000019.10:g.1207047_1207058del
NG_007460.2:g.22641_22652del
NM_000455.5:c.134_145delMANE SELECT
NP_000446.1:p.Leu45_Tyr49delinsHis
LRG_319:g.22641_22652del
NC_000019.9:g.1207046_1207057del
NM_000455.4:c.134_145delTCATCGGCAAGT
p.L45_Y49delinsH

Links:

dbSNP: rs730881958

NCBI 1000 Genomes Browser:

rs730881958

Molecular consequence:

NM_000455.5:c.134_145del - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000211676	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Nov 27, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000211676

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Nov 27, 2013)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000211676.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.134_145del12 mutation was identified in the STK11 gene. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. This deletion results in the loss of five highly conserved residues and the insertion of an incorrect residue in a highly conserved functional domain of the protein. A similar deletion of four residues within the same highly conserved domain has been reported in a family diagnosed with Peutz-Jeghers syndrome (Mehenni et al., 1998). Therefore, c.134_145del12 is interpreted as a disease-causing mutation. The variant is found in STK11 panel(s).

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

Last Updated: Dec 24, 2023

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