NM_000314.8(PTEN):c.802-5_802-3dup AND PTEN hamartoma tumor syndrome

Clinical significance:Likely benign (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000988424.1

Allele description [Variation Report for NM_000314.8(PTEN):c.802-5_802-3dup]

NM_000314.8(PTEN):c.802-5_802-3dup

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.8(PTEN):c.802-5_802-3dup
HGVS:
  • NC_000010.11:g.87960889_87960891dup
  • NG_007466.2:g.102451_102453dup
  • NM_000314.8:c.802-5_802-3dupMANE SELECT
  • NM_001304717.5:c.1322-5_1322-3dup
  • NM_001304718.2:c.211-5_211-3dup
  • LRG_311:g.102451_102453dup
  • NC_000010.10:g.89720633_89720634insTTT
  • NC_000010.10:g.89720646_89720648dup
Links:
dbSNP: rs34003473
NCBI 1000 Genomes Browser:
rs34003473
Molecular consequence:
  • NM_000314.8:c.802-5_802-3dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001304717.5:c.1322-5_1322-3dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001304718.2:c.211-5_211-3dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
PTEN hamartoma tumor syndrome (PHTS)
Synonyms:
PTEN Hamartomatous Tumour Syndrome
Identifiers:
MONDO: MONDO:0017623; MedGen: C1959582; OMIM: 601728

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001138140Mendelicscriteria provided, single submitter
Likely benign
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001138140.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 12, 2021

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