NM_000314.8(PTEN):c.-765G>A AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 10, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000314.8(PTEN):c.-765G>A]


PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
  • NC_000010.11:g.87863705G>A
  • NG_007466.2:g.5268G>A
  • NG_033079.1:g.4733C>T
  • NM_000314.8:c.-765G>AMANE SELECT
  • NM_001304717.5:c.-245G>A
  • NM_001304718.2:c.-1469G>A
  • LRG_311t1:c.-764G>A
  • LRG_1087:g.4733C>T
  • LRG_311:g.5268G>A
  • NC_000010.10:g.89623462G>A
  • NM_000314.4:c.-764G>A
  • c.-765G>A[hg19]
Nucleotide change:
OMIM: 601728.0033; dbSNP: rs587776674
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000314.8:c.-765G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001304717.5:c.-245G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001304718.2:c.-1469G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000222117GeneDxcriteria provided, single submitter
Uncertain significance
(May 10, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000222117.5

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


Describes a nucleotide substitution 765 basepairs upstream of the ATG translational start site in the PTEN promoter region; Observed in individuals with breast or endometrial cancer (Zhou 2003, Teresi 2007); Published functional studies are inconclusive: 60% decrease in luciferase activity, but luciferase mRNA levels similar to wild type; lost protein-DNA interaction and decreased expression by enhanced yeast one-hybrid assay (Teresi 2007, Fuxman Bass 2015); No data available from control populations to assess the frequency of this variant; Also known as c.-764G>A; This variant is associated with the following publications: (PMID: 27569544, 18794875, 23825907, 12844284, 17847000, 23315997, 25910213, 27187382)

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

Last Updated: Nov 27, 2021

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