NM_000314.8(PTEN):c.733C>T (p.Gln245Ter) 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:: RCV003454410.1

Allele description [Variation Report for NM_000314.8(PTEN):c.733C>T (p.Gln245Ter)]

NM_000314.8(PTEN):c.733C>T (p.Gln245Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.31

Genomic location:

Preferred name:

NM_000314.8(PTEN):c.733C>T (p.Gln245Ter)

HGVS:

NC_000010.11:g.87957951C>T
NG_007466.2:g.99513C>T
NM_000314.8:c.733C>TMANE SELECT
NM_001304717.5:c.1252C>T
NM_001304718.2:c.142C>T
NP_000305.3:p.Gln245Ter
NP_000305.3:p.Gln245Ter
NP_001291646.4:p.Gln418Ter
NP_001291647.1:p.Gln48Ter
LRG_311t1:c.733C>T
LRG_311:g.99513C>T
NC_000010.10:g.89717708C>T
NM_000314.4:c.733C>T
NM_000314.6:c.733C>T
NM_000314.7:c.733C>T
p.Gln245*
p.Q245*

Protein change:

Q245*

Links:

dbSNP: rs786202918

NCBI 1000 Genomes Browser:

rs786202918

Molecular consequence:

NM_000314.8:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001304717.5:c.1252C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001304718.2:c.142C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV004188838	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

SCV004188838

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., SCV004188838.1

#	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 termination codon and is 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: Sep 29, 2024

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