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NM_000314.7(PTEN):c.*2185C>T AND PTEN hamartoma tumor syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000314944.1

Allele description

NM_000314.7(PTEN):c.*2185C>T

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.*2185C>T
HGVS:
  • NC_000010.11:g.87967657C>T
  • NG_007466.2:g.109219C>T
  • NM_000314.7:c.*2185C>T
  • NM_001304717.5:c.*2185C>T
  • NM_001304718.2:c.*2185C>T
  • LRG_311t1:c.*2185C>T
  • LRG_311:g.109219C>T
  • NC_000010.10:g.89727414C>T
  • NM_000314.4:c.*2185C>T
Links:
dbSNP: rs11202607
NCBI 1000 Genomes Browser:
rs11202607
Molecular consequence:
  • NM_000314.7:c.*2185C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001304717.5:c.*2185C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001304718.2:c.*2185C>T - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000365802Illumina Clinical Services Laboratory,Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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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, SCV000365802.2

#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 18, 2020