NM_000455.5(STK11):c.790_793del (p.Phe264fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 9, 2023
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:: RCV000492099.3

Allele description [Variation Report for NM_000455.5(STK11):c.790_793del (p.Phe264fs)]

NM_000455.5(STK11):c.790_793del (p.Phe264fs)

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.790_793del (p.Phe264fs)

HGVS:

NC_000019.10:g.1221268_1221271del
NG_007460.2:g.36862_36865del
NM_000455.5:c.790_793delMANE SELECT
NP_000446.1:p.Phe264fs
NP_000446.1:p.Phe264fs
LRG_319t1:c.790_793del
LRG_319:g.36862_36865del
LRG_319p1:p.Phe264fs
NC_000019.9:g.1221264_1221267del
NC_000019.9:g.1221267_1221270del
NM_000455.4:c.790_793del
NM_000455.4:c.790_793delTTTG
p.Phe264fs

Protein change:

F264fs

Links:

dbSNP: rs121913320

NCBI 1000 Genomes Browser:

rs121913320

Molecular consequence:

NM_000455.5:c.790_793del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000580899	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Nov 9, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 15863673, 17010210, 30528796, 9809980 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000580899

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Nov 9, 2023)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

STK11 genotyping and cancer risk in Peutz-Jeghers syndrome.

Schumacher V, Vogel T, Leube B, Driemel C, Goecke T, Möslein G, Royer-Pokora B.

J Med Genet. 2005 May;42(5):428-35. No abstract available.

PubMed [citation]

PMID:: 15863673
PMCID:: PMC1736065

A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Indian patients.

Thakur N, Reddy DN, Rao GV, Mohankrishna P, Singh L, Chandak GR.

BMC Med Genet. 2006 Sep 30;7:73.

PubMed [citation]

PMID:: 17010210
PMCID:: PMC1609100

See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000580899.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

The c.790_793delTTTG pathogenic mutation, located in coding exon 6 of the STK11 gene, results from a deletion of 4 nucleotides at nucleotide positions 790 to 793, causing a translational frameshift with a predicted alternate stop codon (p.F264Rfs*22). This alteration has been identified in multiple cohorts of patients with a clinical diagnosis of Peutz-Jegher syndrome (Resta N et al. Cancer Res. 1998 Nov;58:4799-801; Schumacher V et al. J. Med. Genet. 2005 May;42:428-35; Thakur N et al. BMC Med. Genet. 2006 Sep;7:73; Jiang YL et al. Cancer Genet. 2019 01;230:47-57). Of note, this alteration is also designated as 787del4 in the published literature. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Oct 8, 2024

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