NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs) AND Cowden syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 2001
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000008287.4

Allele description [Variation Report for NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs)]

NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

10q23.31

Genomic location:

Preferred name:

NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs)

Other names:

NM_000314.6(PTEN):c.802delG

HGVS:

NC_000010.11:g.87960894del
NG_007466.2:g.102456del
LRG_311:g.102456del
NC_000010.10:g.89720651del
NC_000010.11:g.87960894delG

Links:

OMIM: 601728.0027; dbSNP: rs587776672

NCBI 1000 Genomes Browser:

rs587776672

Condition(s)

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

Recent activity

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SRP534051 (11)
SRA
ABC transporter permease protein [Fructobacillus pseudoficulneus]
ABC transporter permease protein [Fructobacillus pseudoficulneus]
gi|902949635|dbj|GAP02540.1|

Protein
DNA-directed RNA polymerase alpha chain, partial [Fructobacillus pseudoficulneus...
DNA-directed RNA polymerase alpha chain, partial [Fructobacillus pseudoficulneus]
gi|150036808|emb|CAM98277.1|

Protein
thiamine biosynthesis protein ThiI [Mycoplasmopsis gallinacea]
thiamine biosynthesis protein ThiI [Mycoplasmopsis gallinacea]
gi|794203396|gnl|PRJNA277900|VO56_0 gb|AKA49683.1|

Protein
Microbe sample from Plasmodium falciparum
Microbe sample from Plasmodium falciparum

biosample

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000028494	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2001)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000028494

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2001)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Male breast cancer in Cowden syndrome patients with germline PTEN mutations.

Fackenthal JD, Marsh DJ, Richardson AL, Cummings SA, Eng C, Robinson BG, Olopade OI.

J Med Genet. 2001 Mar;38(3):159-64.

PubMed [citation]

PMID:: 11238682
PMCID:: PMC1734834

Details of each submission

From OMIM, SCV000028494.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Fackenthal et al. (2001) identified a 1-bp deletion in PTEN cDNA in a male with Cowden syndrome (CWS1; 158350) who developed breast cancer at the age of 41 years.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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