NM_000314.8(PTEN):c.802-54_883del AND Cowden syndrome 1

Germline classification:: Likely 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:: RCV003452495.1

Allele description [Variation Report for NM_000314.8(PTEN):c.802-54_883del]

NM_000314.8(PTEN):c.802-54_883del

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.802-54_883del

HGVS:

NC_000010.11:g.87960840_87960975del
NG_007466.2:g.102402_102537del
NM_000314.8:c.802-54_883delMANE SELECT
NM_001304717.5:c.1322-54_1403del
NM_001304718.2:c.211-54_292del
LRG_311:g.102402_102537del
NC_000010.10:g.89720597_89720732del

Molecular consequence:

NM_000314.8:c.802-54_883del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001304717.5:c.1322-54_1403del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001304718.2:c.211-54_292del - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004188813	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Likely pathogenic (Sep 29, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004188813

Myriad Genetics, Inc.

criteria provided, single submitter

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

Likely pathogenic
(Sep 29, 2023)

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., SCV004188813.1

#	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 likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.

#	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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