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

Germline classification:
Benign (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000988423.1

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

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

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.8(PTEN):c.802-5_802-3del
HGVS:
  • NC_000010.11:g.87960889_87960891del
  • NG_007466.2:g.102451_102453del
  • NM_000314.4:c.802-5_802-3del
  • NM_000314.8:c.802-5_802-3delMANE SELECT
  • NM_001304717.5:c.1322-5_1322-3del
  • NM_001304718.2:c.211-5_211-3del
  • LRG_311t1:c.802-5_802-3del
  • LRG_311:g.102451_102453del
  • NC_000010.10:g.89720634_89720636delTTT
  • NC_000010.10:g.89720646_89720648del
  • NM_000314.4:c.802-5_802-3delTTT
Links:
dbSNP: rs34003473
NCBI 1000 Genomes Browser:
rs34003473
Molecular consequence:
  • NM_000314.8:c.802-5_802-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001304717.5:c.1322-5_1322-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001304718.2:c.211-5_211-3del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
PTEN hamartoma tumor syndrome (PHTS)
Synonyms:
PTEN Hamartomatous Tumour Syndrome; PTEN-related disorders
Identifiers:
MONDO: MONDO:0017623; MeSH: D006223; MedGen: C1959582

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001138139Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Benign
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001138139.1

#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: Feb 14, 2024