NM_000314.8(PTEN):c.*1457_*1459del AND PTEN hamartoma tumor syndrome

NM_000314.8(PTEN):c.1457_1459del AND PTEN hamartoma tumor syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000293361.5

Allele description [Variation Report for NM_000314.8(PTEN):c.1457_1459del]

NM_000314.8(PTEN):c.1457_1459del

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.*1457_*1459del

HGVS:

NC_000010.11:g.87966929_87966931del
NG_007466.2:g.108491_108493del
NM_000314.8:c.*1457_*1459delMANE SELECT
NM_001304717.5:c.*1457_*1459del
NM_001304718.2:c.*1457_*1459del
LRG_311t1:c.*1457_*1459del
LRG_311:g.108491_108493del
NC_000010.10:g.89726686_89726688del
NM_000314.4:c.*1457_*1459delTTT

Links:

dbSNP: rs5786797

NCBI 1000 Genomes Browser:

rs5786797

Molecular consequence:

NM_000314.8:c.*1457_*1459del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001304717.5:c.*1457_*1459del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001304718.2:c.*1457_*1459del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

phosphate propanoyltransferase [Thermincola potens]
phosphate propanoyltransferase [Thermincola potens]
gi|502885101|ref|WP_013120077.1|

Protein
Abnormal breast physiology
Abnormal breast physiology

MedGen

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000365773	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000365773

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000365773.2

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 25, 2024

ClinVar

Relating variation to medicine