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NM_000314.8(PTEN):c.802-4_802-3dup

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 30, 2020)
Last evaluated:
Nov 25, 2014
Accession:
VCV000092832.3
Variation ID:
92832
Description:
2bp duplication
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NM_000314.8(PTEN):c.802-4_802-3dup

Allele ID
98739
Variant type
Duplication
Variant length
2 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_000010.11:g.87960890_87960891dup
NC_000010.10:g.89720647_89720648dup
NM_000314.8:c.802-4_802-3dup MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA203572
dbSNP: rs34003473
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Nov 25, 2014 RCV000180135.1
Likely benign 1 criteria provided, single submitter Nov 16, 2014 RCV000221226.1
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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
(Nov 25, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000232522.3
Submitted: (Nov 03, 2016)
Evidence details
Other databases
http://geneticslab.emory.edu/emv…
Likely benign
(Nov 16, 2014)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000272939.6
Submitted: (Nov 30, 2020)
Evidence details
Comment:
This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, … (more)

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 Jan 09, 2021