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NM_000314.8(PTEN):c.-795C>G AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 22, 2014
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000169889.2

Allele description [Variation Report for NM_000314.8(PTEN):c.-795C>G]

NM_000314.8(PTEN):c.-795C>G

Genes:
LOC130004273:ATAC-STARR-seq lymphoblastoid silent region 2585 [Gene]
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.8(PTEN):c.-795C>G
HGVS:
  • NC_000010.11:g.87863675C>G
  • NG_007466.2:g.5238C>G
  • NG_033079.1:g.4763G>C
  • NM_000314.8:c.-795C>GMANE SELECT
  • NM_001304717.5:c.-275C>G
  • NM_001304718.2:c.-1499C>G
  • LRG_311t1:c.-794C>G
  • LRG_1087:g.4763G>C
  • LRG_311:g.5238C>G
  • NC_000010.10:g.89623432C>G
  • NM_000314.4:c.-794C>G
  • c.-795C>G[hg19]
Links:
dbSNP: rs786204942
NCBI 1000 Genomes Browser:
rs786204942
Molecular consequence:
  • NM_000314.8:c.-795C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001304717.5:c.-275C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001304718.2:c.-1499C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000222219GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Aug 22, 2014) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000222219.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is denoted PTEN c.-795C>G, and describes a nucleotide substitution 795 base pairs upstream of the ATG translational start site in the PTEN promoter region. The surrounding sequence, with the base that is substituted in brackets, is GAGC[C/G]GCTG. This variant, also called c.-794C>G using alternate numbering, has not, to our knowledge, been published in the literature. One study found that approximately 9% (9/95) of patients with Cowden syndrome (CS) were identified to have a point variant in the PTEN core promoter region (c.-798 to c.-1238) (Zhou 2003). While the c.-795C>G variant is outside of this core promoter region, it could still have an effect on transcription and, possibly, PTEN protein levels. Based on the currently available information, we consider this to be a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 14, 2023