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

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Oct 22, 2019)
Last evaluated:
May 28, 2019
Accession:
VCV000092831.2
Variation ID:
92831
Description:
1bp duplication
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NM_000314.6(PTEN):c.802-3dupT

Allele ID
98738
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
10q23.31
Genomic location
10: 87960876-87960877 (GRCh38) GRCh38 UCSC
10: 89720633-89720634 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.89720648dup
NC_000010.11:g.87960891dup
NM_000314.7:c.802-3dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA000592
dbSNP: rs34003473
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts May 28, 2019 RCV000198551.4
Benign 1 criteria provided, single submitter May 20, 2014 RCV000180134.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PTEN Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh37
1948 2185

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Mar 18, 2016)
criteria provided, single submitter
Method: clinical testing
PTEN hamartoma tumor syndrome
Allele origin: germline
Invitae
Accession: SCV000252695.4
Submitted: (Aug 15, 2016)
Evidence details
Benign
(May 20, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000232521.3
Submitted: (Nov 03, 2016)
Evidence details
Other databases
http://geneticslab.emory.edu/emv…
Benign
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
None
Allele origin: unknown
Mendelics
Accession: SCV001138138.1
Submitted: (Oct 22, 2019)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://geneticslab.emory.edu/emvclass/emvclass.php?approved_symbol=PTEN - - - -

Text-mined citations for rs34003473...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 08, 2021