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NC_000010.11:g.87863521C>T AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 25, 2021
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:
RCV001840920.2

Allele description [Variation Report for NC_000010.11:g.87863521C>T]

NC_000010.11:g.87863521C>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:
NC_000010.11:g.87863521C>T
HGVS:
  • NC_000010.11:g.87863521C>T
  • NG_007466.2:g.5084C>T
  • NG_033079.1:g.4917G>A
  • NM_001126049.2:c.-1034G>AMANE SELECT
  • LRG_1087t1:c.-1034G>A
  • LRG_1087:g.4917G>A
  • LRG_311:g.5084C>T
  • NC_000010.10:g.89623278C>T
Links:
dbSNP: rs2132140332
NCBI 1000 Genomes Browser:
rs2132140332
Molecular consequence:
  • NM_001126049.2:c.-1034G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002099719GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Aug 25, 2021) 		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, SCV002099719.2

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

Description

Describes a nucleotide substitution 949 basepairs upstream of the ATG translational start site in the PTEN promoter region; Nucleotide substitution has no predicted effect on splicing and is not conserved across species; No data available from control populations to assess the frequency of this variant; 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.-948C>T; This variant is associated with the following publications: (PMID: 12844284)

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

Last Updated: Oct 8, 2024