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NM_000314.7(PTEN):c.1026+32T>G

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Interpretation:
Benign​

Review status:
reviewed by expert panel FDA Recognized Database
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 14, 2016
Accession:
VCV000092810.4
Variation ID:
92810
Description:
single nucleotide variant
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NM_000314.7(PTEN):c.1026+32T>G

Allele ID
98717
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.31
Genomic location
10: 87961150 (GRCh38) GRCh38 UCSC
10: 89720907 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.89720907T>G
NC_000010.11:g.87961150T>G
NM_000314.7:c.1026+32T>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:87961149:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.43251 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.38586
Trans-Omics for Precision Medicine (TOPMed) 0.40855
1000 Genomes Project 0.43251
Exome Aggregation Consortium (ExAC) 0.36991
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.37864
The Genome Aggregation Database (gnomAD), exomes 0.37331
Links
ClinGen: CA000255
dbSNP: rs555895
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 reviewed by expert panel Sep 14, 2016 RCV000710294.2
Benign 1 criteria provided, single submitter - RCV000078603.7
Benign 1 criteria provided, single submitter Apr 6, 2020 RCV001281954.1
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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
(Sep 14, 2016)
reviewed by expert panel
Method: curation
PTEN hamartoma tumor syndrome
(Autosomal dominant inheritance)
Allele origin: germline
ClinGen PTEN Variant Curation Expert Panel
FDA Recognized Database
Accession: SCV000840460.2
Submitted: (Oct 11, 2018)
Evidence details
Comment:
PTEN c.1026+32T>G (IVS8+32T>G) meets criteria to be classified as benign for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (Mester … (more)
Benign
(Apr 06, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000604968.3
Submitted: (Dec 11, 2020)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics, PreventionGenetics
Accession: SCV000303568.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
PTEN hamartoma tumor syndrome
Allele origin: germline
Invitae
Accession: SCV001722146.1
Submitted: (Jan 07, 2021)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs555895...

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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 Jun 14, 2021