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NM_000314.6(PTEN):c.-994_-984dup AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 2, 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:
RCV000598692.10

Allele description [Variation Report for NM_000314.6(PTEN):c.-994_-984dup]

NM_000314.6(PTEN):c.-994_-984dup

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:
Duplication
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.6(PTEN):c.-994_-984dup
HGVS:
  • NC_000010.11:g.87863475_87863485dup
  • NG_007466.2:g.5038_5048dup
  • NG_033079.1:g.4956_4966dup
  • NG_183718.1:g.196_206dup
  • NM_000314.6:c.-994_-984dup
  • NM_001126049.2:c.-995_-985dupMANE SELECT
  • NM_001304717.4:c.-475_-465dup
  • NM_001304718.1:c.-1699_-1689dup
  • LRG_1087t1:c.-995_-985dup
  • LRG_311t1:c.-994_-984dup
  • LRG_1087:g.4956_4966dup
  • LRG_311:g.5038_5048dup
  • NC_000010.10:g.89623232_89623242dup
  • NM_000314.4:c.-994_-984dup
  • NM_000314.4:c.-994_-984dupTCGCCTCCCGC
Links:
dbSNP: rs587782811
NCBI 1000 Genomes Browser:
rs587782811
Molecular consequence:
  • NM_001126049.2:c.-995_-985dup - 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
SCV000709887GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Nov 2, 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, SCV000709887.1

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

Description

This variant is denoted PTEN c.-995_-985dup11, and describes a duplication of 11 nucleotides that starts 985 base pairs upstream of the ATG translational start site in the PTEN promoter region. The surrounding sequence is TCGC[dup11]CTCC. This variant has not, to our knowledge, been reported in the literature. PTEN c.-995_-985dup11 occurs within a region of the PTEN promoter (c.-798 to c.-1238) in which variants have been observed in individuals with features of Cowden syndrome (Zhou 2003). At this time, 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: Oct 20, 2024