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NM_001126049.2(KLLN):c.-716G>T AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 26, 2015
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:
RCV000598652.10

Allele description [Variation Report for NM_001126049.2(KLLN):c.-716G>T]

NM_001126049.2(KLLN):c.-716G>T

Genes:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
KLLN:killin, p53 regulated DNA replication inhibitor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_001126049.2(KLLN):c.-716G>T
HGVS:
  • NC_000010.11:g.87863203C>A
  • NG_007466.2:g.4766C>A
  • NG_033079.1:g.5235G>T
  • NM_001126049.2:c.-716G>TMANE SELECT
  • LRG_1087t1:c.-716G>T
  • LRG_311t1:c.-1266C>A
  • LRG_1087:g.5235G>T
  • LRG_311:g.4766C>A
  • NC_000010.10:g.89622960C>A
  • NM_000314.4:c.-1266C>A
Links:
dbSNP: rs1042847417
NCBI 1000 Genomes Browser:
rs1042847417
Molecular consequence:
  • NM_001126049.2:c.-716G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000709835GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jan 26, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000709835.1

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

Description

This variant is denoted PTEN c.-1267C>A, and describes a nucleotide substitution 1267 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 CCTA[C/A]CCTG. This variant, also called c.-1266C>A using alternate numbering, has not been published in the literature to our knowledge. 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.-1267C>A 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: Aug 25, 2024