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NM_000314.8(PTEN):c.-799G>C

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Interpretation:
Uncertain significance​

Review status:
reviewed by expert panel FDA Recognized Database
Submissions:
5 (Most recent: Oct 22, 2019)
Last evaluated:
Apr 6, 2018
Accession:
VCV000127674.4
Variation ID:
127674
Description:
single nucleotide variant
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NM_000314.8(PTEN):c.-799G>C

Allele ID
133131
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.31
Genomic location
10: 87863671 (GRCh38) GRCh38 UCSC
10: 89623428 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_311:g.5234G>C
LRG_1087:g.4767C>G
LRG_311t1:c.-798G>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:87863670:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA000581
dbSNP: rs587779992
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 3 reviewed by expert panel Apr 6, 2018 RCV000232535.3
Likely benign 1 criteria provided, single submitter Dec 13, 2013 RCV000115569.5
Uncertain significance 1 criteria provided, single submitter May 1, 2018 RCV000258981.1
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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
2001 2243

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 06, 2018)
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: SCV000863481.2
Submitted: (Dec 03, 2018)
Evidence details
Comment:
PTEN c.-798G>C (NC_000010.10:g.89623428G>C) is currently classified as a variant of uncertain significance for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG … (more)
Likely benign
(Dec 13, 2013)
criteria provided, single submitter
Method: clinical testing
Neoplastic Syndromes, Hereditary
Allele origin: germline
Ambry Genetics
Accession: SCV000185531.1
Submitted: (Jul 25, 2014)
Evidence details
Uncertain significance
(May 01, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000149478.5
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted PTEN c.-799G>C, and describes a nucleotide substitution 799 base pairs upstream of the ATG translational start site in the PTEN promoter … (more)
Likely benign
(Mar 07, 2016)
criteria provided, single submitter
Method: clinical testing
PTEN hamartoma tumor syndrome
Allele origin: germline
Invitae
Accession: SCV000284574.2
Submitted: (Jun 10, 2016)
Evidence details
Benign
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
None
Allele origin: unknown
Mendelics
Accession: SCV001138120.1
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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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 rs587779992...

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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 Oct 30, 2021