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NM_000314.8(PTEN):c.-826T>C AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 13, 2019
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:
RCV001556707.2

Allele description [Variation Report for NM_000314.8(PTEN):c.-826T>C]

NM_000314.8(PTEN):c.-826T>C

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.-826T>C
HGVS:
  • NC_000010.11:g.87863644T>C
  • NG_007466.2:g.5207T>C
  • NG_033079.1:g.4794A>G
  • NM_000314.8:c.-826T>CMANE SELECT
  • NM_001304717.5:c.-306T>C
  • NM_001304718.2:c.-1530T>C
  • LRG_1087:g.4794A>G
  • LRG_311:g.5207T>C
  • NC_000010.10:g.89623401T>C
Links:
dbSNP: rs1211940775
NCBI 1000 Genomes Browser:
rs1211940775
Molecular consequence:
  • NM_000314.8:c.-826T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001304717.5:c.-306T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001304718.2:c.-1530T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001778336GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Dec 13, 2019) 		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, SCV001778336.1

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

Description

Describes a nucleotide substitution 826 base pairs upstream of the ATG translational start site in the PTEN promoter region; Adequate data are not available in large population cohorts to assess the frequency of this variant in publicly available databases; Variants within the PTEN promoter have been observed in individuals with features of Cowden syndrome (Zhou 2003); Has not been previously published as pathogenic or benign to our knowledge; Also known as c.-825T>C

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

Last Updated: Dec 24, 2023