NM_000314.8(PTEN):c.802-3del AND PTEN hamartoma tumor syndrome

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

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 15, 2015
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:: RCV000196322.2

Allele description

NM_000314.8(PTEN):c.802-3del

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.802-3del

HGVS:

NC_000010.11:g.87960891del
NG_007466.2:g.102453del
NM_000314.4:c.802-17delT
NM_000314.8:c.802-3delMANE SELECT
NM_001304717.5:c.1322-3del
NM_001304718.2:c.211-3del
LRG_311t1:c.802-3del
LRG_311:g.102453del
NC_000010.10:g.89720648del
NM_000314.4:c.802-17delT
NM_000314.4:c.802-3del
NM_000314.4:c.802-3delT
NM_000314.6:c.802-3del
NM_000314.6:c.802-3delT
NM_000314.8:c.802-3delTMANE SELECT

Links:

dbSNP: rs34003473

NCBI 1000 Genomes Browser:

rs34003473

Molecular consequence:

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

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000252697	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Aug 15, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000252697

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Aug 15, 2015)

germline

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV000252697.3

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

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

Last Updated: Jul 30, 2022

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