U.S. flag

An official website of the United States government

NM_000314.6(PTEN):c.-1019C>T AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 6, 2017
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:
RCV000586253.10

Allele description [Variation Report for NM_000314.6(PTEN):c.-1019C>T]

NM_000314.6(PTEN):c.-1019C>T

Genes:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
LOC130004273:ATAC-STARR-seq lymphoblastoid silent region 2585 [Gene]
KLLN:killin, p53 regulated DNA replication inhibitor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.6(PTEN):c.-1019C>T
HGVS:
  • NC_000010.11:g.87863450C>T
  • NG_007466.2:g.5013C>T
  • NG_033079.1:g.4988G>A
  • NG_183718.1:g.171C>T
  • NM_000314.4:c.-1019C>T
  • NM_000314.6:c.-1019C>T
  • NM_001126049.2:c.-963G>AMANE SELECT
  • NM_001304717.4:c.-500C>T
  • NM_001304718.1:c.-1724C>T
  • LRG_1087t1:c.-963G>A
  • LRG_311t1:c.-1019C>T
  • LRG_1087:g.4988G>A
  • LRG_311:g.5013C>T
  • NC_000010.10:g.89623207C>T
Links:
dbSNP: rs1554889877
NCBI 1000 Genomes Browser:
rs1554889877
Molecular consequence:
  • NM_001126049.2:c.-963G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000696519Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Apr 6, 2017) 		germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000696519.1

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

Description

Variant summary: The PTEN variant c.-1019C>T (also known as c.-1020C>T) is located in the 5' UTR at a non-conserved position, which one in silico tool predicts the variant to be "disease-causing." However, this prediction has yet to be functionally assessed. The location of this variant is not evaluated in the large, broad control population, ExAC, therefore, it cannot be established as to whether this variant is observed in controls or not. In addition, the variant of interest has not been reported in publications or clinical diagnostic laboratories/reputable databases, to our knowledge. Therefore, due to the limited available information (ie, lack of clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)."

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

Last Updated: Nov 10, 2024