NM_000314.8(PTEN):c.784_788del (p.Asn262fs) AND Cowden syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 29, 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:: RCV003452607.1

Allele description [Variation Report for NM_000314.8(PTEN):c.784_788del (p.Asn262fs)]

NM_000314.8(PTEN):c.784_788del (p.Asn262fs)

Gene:

PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

10q23.31

Genomic location:

Preferred name:

NM_000314.8(PTEN):c.784_788del (p.Asn262fs)

HGVS:

NC_000010.11:g.87958002_87958006del
NG_007466.2:g.99564_99568del
NM_000314.8:c.784_788delMANE SELECT
NM_001304717.5:c.1303_1307del
NM_001304718.2:c.193_197del
NP_000305.3:p.Asn262Aspfs
NP_000305.3:p.Asn262fs
NP_001291646.4:p.Asn435fs
NP_001291647.1:p.Asn65fs
LRG_311t1:c.784_788del
LRG_311:g.99564_99568del
LRG_311p1:p.Asn262Aspfs
NC_000010.10:g.89717759_89717763del
NM_000314.4:c.784_788delAACAA

Protein change:

N262fs

Molecular consequence:

NM_000314.8:c.784_788del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001304717.5:c.1303_1307del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001304718.2:c.193_197del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Cowden syndrome 1 (CWS1)
Identifiers:: MONDO: MONDO:0008021; MedGen: CN072330; OMIM: 158350

Recent activity

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Profile neighbors for GEO Profiles (Select 100496835) (199)
GEO Profiles
Apoptosis Regulatory Proteins
Apoptosis Regulatory Proteins
A large group of proteins that control APOPTOSIS. This family of proteins includes many ONCOGENE PROTEINS as well as a wide variety of classes of INTRACELLULAR SIGNALING PEPTI...<br/>Year introduced: 2006

MeSH
"Apoptosis Regulatory Proteins "[MESH] (1)
MeSH
Component(Core) Links for Nucleotide (Select 197209880) (3)
Nucleotide
RBP5 retinol binding protein 5 [Homo sapiens]
RBP5 retinol binding protein 5 [Homo sapiens]
Gene ID:83758

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004189793	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Sep 29, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004189793

Myriad Genetics, Inc.

criteria provided, single submitter

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

Pathogenic
(Sep 29, 2023)

unknown

clinical testing

Citation Link

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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., SCV004189793.1

#	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: Dec 30, 2023

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