NM_000314.8(PTEN):c.802-4_802-3dup AND not specified

Clinical significance:Benign (Last evaluated: Nov 25, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000180135.1

Allele description [Variation Report for NM_000314.8(PTEN):c.802-4_802-3dup]

NM_000314.8(PTEN):c.802-4_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.802-4_802-3dup
HGVS:
  • NC_000010.11:g.87960890_87960891dup
  • NG_007466.2:g.102452_102453dup
  • NM_000314.8:c.802-4_802-3dupMANE SELECT
  • NM_001304717.5:c.1322-4_1322-3dup
  • NM_001304718.2:c.211-4_211-3dup
  • LRG_311t1:c.802-4_802-3dup
  • LRG_311:g.102452_102453dup
  • NC_000010.10:g.89720647_89720648dup
  • NM_000314.4:c.802-4_802-3dupTT
Links:
dbSNP: rs34003473
NCBI 1000 Genomes Browser:
rs34003473
Molecular consequence:
  • NM_000314.8:c.802-4_802-3dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001304717.5:c.1322-4_1322-3dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001304718.2:c.211-4_211-3dup - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000232522EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Nov 25, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000232522.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Jan 9, 2021

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