NM_000314.8(PTEN):c.732_781del (p.Gln245fs) 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:: RCV003452613.1

Allele description [Variation Report for NM_000314.8(PTEN):c.732_781del (p.Gln245fs)]

NM_000314.8(PTEN):c.732_781del (p.Gln245fs)

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.732_781del (p.Gln245fs)

HGVS:

NC_000010.11:g.87957950_87957999del
NG_007466.2:g.99512_99561del
NM_000314.8:c.732_781delMANE SELECT
NM_001304717.5:c.1251_1300del
NM_001304718.2:c.141_190del
NP_000305.3:p.Gln245Glufs
NP_000305.3:p.Gln245fs
NP_001291646.4:p.Gln418fs
NP_001291647.1:p.Gln48fs
LRG_311t1:c.732_781del50
LRG_311:g.99512_99561del
LRG_311p1:p.Gln245Glufs
NC_000010.10:g.89717707_89717756del
NM_000314.4:c.732_781del50

Protein change:

Q245fs

Molecular consequence:

NM_000314.8:c.732_781del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001304717.5:c.1251_1300del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001304718.2:c.141_190del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV004189799	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

SCV004189799

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

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., SCV004189799.1

#	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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