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NM_000314.7(PTEN):c.802-3del

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jul 1, 2021)
Last evaluated:
Jul 7, 2020
Accession:
VCV000229653.5
Variation ID:
229653
Description:
1bp deletion
#
SCV Submitter Clinical significance Review status Collection method Number of
individuals
Number of
families
Interpreted condition
(Affected status)
Allele origin Clinical features
(Affected status)
Comments on
clinical features
Indication for testing Zygosity Citations Links Comments on
clinical significance
Comments on
evidence
Family history Segregation
observed
Age Sex Ethnicity/Population
group
Geographic origin Tissue Secondary finding Study name Method Result Testing laboratory Testing laboratory
interpretation
Date interpretation
reported to submitter
1 SCV000252697.3 Invitae Benign criteria provided,
single submitter
clinical testing PTEN hamartoma tumor syndrome (unknown ) germline
1 SCV000604974.1 ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories Benign criteria provided,
single submitter
clinical testing not specified (unknown ) germline
1 SCV000692020.1 Mayo Clinic Laboratories, Mayo Clinic Benign no assertion criteria provided clinical testing not specified (unknown ) unknown
1 SCV000712182.2 Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine Benign criteria provided,
single submitter
clinical testing 1 1 not specified (not provided ) germline c.802-3delT in intron 7 of PTEN: This variant is not expected to have clinical s ignificance because it has been identified in 33.66% (3462/10286) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs771859047).
1 SCV000272934.5 Ambry Genetics Benign criteria provided,
single submitter
clinical testing 1 Hereditary cancer-predisposing syndrome (unknown ) germline General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
1 SCV001744586.1 Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Likely benign no assertion criteria provided clinical testing not provided (yes ) germline