NM_000314.8(PTEN):c.755A>G (p.Asp252Gly) 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:: RCV003450620.1

Allele description [Variation Report for NM_000314.8(PTEN):c.755A>G (p.Asp252Gly)]

NM_000314.8(PTEN):c.755A>G (p.Asp252Gly)

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.755A>G (p.Asp252Gly)

Other names:

NM_000314.6(PTEN):c.755A>G

HGVS:

NC_000010.11:g.87957973A>G
NG_007466.2:g.99535A>G
NM_000314.8:c.755A>GMANE SELECT
NM_001304717.5:c.1274A>G
NM_001304718.2:c.164A>G
NP_000305.3:p.Asp252Gly
NP_001291646.4:p.Asp425Gly
NP_001291647.1:p.Asp55Gly
LRG_311t1:c.755A>G
LRG_311:g.99535A>G
NC_000010.10:g.89717730A>G
NM_000314.4:c.755A>G
P60484:p.Asp252Gly

Protein change:

D252G; ASP252GLY

Links:

UniProtKB: P60484#VAR_032637; OMIM: 601728.0038; dbSNP: rs121909239

NCBI 1000 Genomes Browser:

rs121909239

Molecular consequence:

NM_000314.8:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001304717.5:c.1274A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001304718.2:c.164A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004188735	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	PubMed (6) [See all records that cite these PMIDs] 25527629, 26579216, 27405757, 15805158, 21194675, 23335809 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004188735

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

PubMed (6)
[See all records that cite these PMIDs]

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

Citations

PubMed

Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Spinelli L, Black FM, Berg JN, Eickholt BJ, Leslie NR.

J Med Genet. 2015 Feb;52(2):128-34. doi: 10.1136/jmedgenet-2014-102803. Epub 2014 Dec 19.

PubMed [citation]

PMID:: 25527629
PMCID:: PMC4316932

Cytoplasm-predominant Pten associates with increased region-specific brain tyrosine hydroxylase and dopamine D2 receptors in mouse model with autistic traits.

He X, Thacker S, Romigh T, Yu Q, Frazier TW Jr, Eng C.

Mol Autism. 2015;6:63. doi: 10.1186/s13229-015-0056-6. Erratum in: Mol Autism. 2016 Feb 03;7:14. doi: 10.1186/s13229-016-0075-y.

PubMed [citation]

PMID:: 26579216
PMCID:: PMC4647625

See all PubMed Citations (6)

Details of each submission

From Myriad Genetics, Inc., SCV004188735.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 25527629, 26579216, 27405757]. This variant is expected to disrupt protein structure [Myriad internal data]. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 15805158, 21194675, 23335809].

#	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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