NM_000314.6(PTEN):c.802-3dupT AND not specified

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

Germline classification:: Benign (1 submission)
Last evaluated:: May 20, 2014
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:: RCV000180134.1

Allele description

NM_000314.6(PTEN):c.802-3dupT

Gene:

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

Variant type:

Duplication

Cytogenetic location:

10q23.31

Genomic location:

Preferred name:

NM_000314.6(PTEN):c.802-3dupT

HGVS:

NC_000010.11:g.87960891dup
NG_007466.2:g.102453dup
NM_000314.7:c.802-3dup
NM_001304717.5:c.1322-3dup
NM_001304718.2:c.211-3dup
LRG_311t1:c.802-3_802-2insT
LRG_311t1:c.802-53_802-18delTTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCinsTTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCT
LRG_311:g.102453dup
NC_000010.10:g.89720633_89720634insT
NC_000010.10:g.89720648dup
NM_000314.6:c.802-3dupT

Links:

dbSNP: rs34003473

NCBI 1000 Genomes Browser:

rs34003473

Molecular consequence:

NM_000314.7:c.802-3dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001304717.5:c.1322-3dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001304718.2:c.211-3dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000232521	EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	criteria provided, single submitter (EGL Classification Definitions)	Benign (May 20, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000232521

EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

criteria provided, single submitter

(EGL Classification Definitions)

Benign
(May 20, 2014)

germline

clinical testing

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 EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000232521.3

#	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: Apr 13, 2021

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