NM_000314.7(PTEN):c.*1516T>C AND PTEN hamartoma tumor syndrome

Clinical significance:Benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000301364.1

Allele description

NM_000314.7(PTEN):c.*1516T>C

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.7(PTEN):c.*1516T>C
HGVS:
  • NC_000010.11:g.87966988T>C
  • NG_007466.2:g.108550T>C
  • NM_000314.7:c.*1516T>C
  • NM_001304717.5:c.*1516T>C
  • NM_001304718.2:c.*1516T>C
  • LRG_311t1:c.*1516T>C
  • LRG_311:g.108550T>C
  • NC_000010.10:g.89726745T>C
  • NM_000314.4:c.*1516T>C
Links:
dbSNP: rs701848
NCBI 1000 Genomes Browser:
rs701848
Molecular consequence:
  • NM_000314.7:c.*1516T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001304717.5:c.*1516T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001304718.2:c.*1516T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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
SCV000365782Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000365782.2

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

Last Updated: Apr 17, 2020

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