NM_000314.8(PTEN):c.802-5_802-3dup AND PTEN hamartoma tumor syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (1 submission)
Last evaluated:: May 28, 2019
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:: RCV000988424.1

Allele description

NM_000314.8(PTEN):c.802-5_802-3dup

Gene:

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

Variant type:

Duplication

Cytogenetic location:

10q23.31

Genomic location:

Preferred name:

NM_000314.8(PTEN):c.802-5_802-3dup

HGVS:

NC_000010.11:g.87960889_87960891dup
NG_007466.2:g.102451_102453dup
NM_000314.4:c.802-5_802-3dupTTT
NM_000314.8:c.802-5_802-3dupMANE SELECT
NM_001304717.5:c.1322-5_1322-3dup
NM_001304718.2:c.211-5_211-3dup
LRG_311t1:c.802-17_802-16insTTT
LRG_311:g.102451_102453dup
NC_000010.10:g.89720633_89720634insTTT
NC_000010.10:g.89720646_89720648dup
NM_000314.4:c.802-17_802-16insTTT
NM_000314.4:c.802-5_802-3dupTTT
NM_000314.8:c.802-5_802-3dupTTTMANE SELECT

Links:

dbSNP: rs34003473

NCBI 1000 Genomes Browser:

rs34003473

Molecular consequence:

NM_000314.8:c.802-5_802-3dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001304717.5:c.1322-5_1322-3dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001304718.2:c.211-5_211-3dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: PTEN hamartoma tumor syndrome (PHTS)
Synonyms:: PTEN Hamartomatous Tumour Syndrome
Identifiers:: MONDO: MONDO:0017623; MeSH: D006223; MedGen: C1959582

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001138140	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Likely benign (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001138140

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Likely benign
(May 28, 2019)

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 Mendelics, SCV001138140.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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: Aug 13, 2023

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