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NM_000314.6(PTEN):c.-1311T>C

Variation ID: Help
127667
Review status: Help
reviewed by expert panel3 stars out of maximum of 4 stars FDA Recognized Database

Interpretation Help

Clinical significance:
Benign
Last evaluated:
Jun 2, 2017
Number of submission(s):
2
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_000314.6(PTEN):c.-1311T>C

Allele ID:
133124
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
  • Chr10: 87863158 (on Assembly GRCh38)
  • Chr10: 89622915 (on Assembly GRCh37)
HGVS:
  • NG_007466.2:g.4721T>C
  • NM_000314.6:c.-1311T>C
  • NC_000010.11:g.87863158T>C (GRCh38)
  • LRG_311t1:c.-1311T>C
  • NC_000010.10:g.89622915T>C (GRCh37)
  • NM_000314.4:c.-1311T>C
  • LRG_311:g.4721T>C
Links:
NCBI 1000 Genomes Browser:
rs70937047
Molecular consequence:
NM_000314.6:c.-1311T>C: 2KB upstream variant [Sequence Ontology SO:0001636]
Allele frequency:
  • 1000 Genomes Project 0.00060 (C)
  • 1000 Genomes Project 0.00060
  • The Genome Aggregation Database (gnomAD) 0.00074
  • Trans-Omics for Precision Medicine (TOPMed) 0.00111

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Benign
(Jun 2, 2017)
reviewed by expert panel
curationgermline
    ClinGen PTEN Variant Curation Expert Panel
    FDA Recognized Database
    SCV000840491.1
    Likely benign
    (Jun 1, 2016)
    criteria provided, single submitter
    clinical testinggermline
      GeneDxSCV000149471.8
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submittersnot providednot providedgermlinenot providednot provided
      ClinGen PTEN Variant Curation Expert Panelnot providednot providedgermlinenot providednot providednot providedPTEN c.-1311T>C (NC_000010.10:…Full description
      GeneDxnot providednot providedgermlinenot providednot providednot providedThis variant is considered lik…Full description
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Dec 24, 2018

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