NM_000455.5(STK11):c.156_157dup (p.Asp53fs) AND Peutz-Jeghers syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 9, 2024
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:: RCV004059120.1

Allele description [Variation Report for NM_000455.5(STK11):c.156_157dup (p.Asp53fs)]

NM_000455.5(STK11):c.156_157dup (p.Asp53fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

19p13.3

Genomic location:

Preferred name:

NM_000455.5(STK11):c.156_157dup (p.Asp53fs)

HGVS:

NC_000019.10:g.1207069_1207070dup
NG_007460.2:g.22663_22664dup
NM_000455.5:c.156_157dupMANE SELECT
NM_001407255.1:c.156_157dup
NP_000446.1:p.Asp53Glyfs
NP_000446.1:p.Asp53fs
NP_001394184.1:p.Asp53Glyfs
LRG_319t1:c.156_157dup
LRG_319:g.22663_22664dup
LRG_319p1:p.Asp53Glyfs
NC_000019.9:g.1207068_1207069dup
NM_000455.4:c.156_157dup
NM_000455.4:c.156_157dupGG
NR_176325.1:n.1292_1293dup

Protein change:

D53fs

Molecular consequence:

NM_000455.5:c.156_157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407255.1:c.156_157dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Peutz-Jeghers syndrome (PJS)
Synonyms:: POLYPOSIS, HAMARTOMATOUS INTESTINAL; POLYPS-AND-SPOTS SYNDROME; Peutz-Jeghers polyposis; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008280; MeSH: D010580; MedGen: C0031269; Orphanet: 2869; OMIM: 175200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004933842	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Feb 9, 2024)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004933842

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Pathogenic
(Feb 9, 2024)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004933842.1

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

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

Last Updated: Oct 8, 2024

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