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NM_000455.5(STK11):c.155_157del (p.Gly52del) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 24, 2015
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:
RCV000492735.3

Allele description [Variation Report for NM_000455.5(STK11):c.155_157del (p.Gly52del)]

NM_000455.5(STK11):c.155_157del (p.Gly52del)

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.155_157del (p.Gly52del)
HGVS:
  • NC_000019.10:g.1207068_1207070del
  • NG_007460.2:g.22662_22664del
  • NM_000455.5:c.155_157delMANE SELECT
  • NP_000446.1:p.Gly52del
  • LRG_319:g.22662_22664del
  • NC_000019.9:g.1207065_1207067del
  • NC_000019.9:g.1207067_1207069del
  • NM_000455.4:c.155_157delGGG
Protein change:
G52del
Links:
dbSNP: rs1131690917
NCBI 1000 Genomes Browser:
rs1131690917
Molecular consequence:
  • NM_000455.5:c.155_157del - inframe_deletion - [Sequence Ontology: SO:0001822]

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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000580893Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Sep 24, 2015) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma.

Olschwang S, Boisson C, Thomas G.

J Med Genet. 2001 Jun;38(6):356-60.

PubMed [citation]
PMID:
11389158
PMCID:
PMC1734902

Details of each submission

From Ambry Genetics, SCV000580893.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.155_157delGGG variant (also known as p.G52del) is located in coding exon 1 of the STK11 gene. This variant results from an in-frame deletion of 3 nucleotides at positions 155 to 157, causing the removal of a highly conserved glycine residue at codon 52. This alteration, referred to as 153del3, was previously identified in one individual with a clinical diagnosis of Peutz-Jeghers syndrome (PJS), who was found to have perioral hyperpigmentation as well as hamartomatous lesions in the stomach, duodenum, and colon (Olschwang S et al. J. Med. Genet. 2001 Jun; 38(6):356-60). Based on protein sequence alignment, this amino acid position is highly conserved in available vertebrate species. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: Oct 8, 2024