NM_000314.8(PTEN):c.617_621del (p.Phe206fs) AND PTEN hamartoma tumor syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 2017
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:: RCV000490611.1

Allele description [Variation Report for NM_000314.8(PTEN):c.617_621del (p.Phe206fs)]

NM_000314.8(PTEN):c.617_621del (p.Phe206fs)

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.617_621del (p.Phe206fs)

HGVS:

NC_000010.11:g.87952242_87952246del
NG_007466.2:g.93804_93808del
NM_000314.8:c.617_621delMANE SELECT
NM_001304717.5:c.1136_1140del
NM_001304718.2:c.26_30del
NP_000305.3:p.Phe206fs
NP_001291646.4:p.Phe379fs
NP_001291647.1:p.Phe9fs
LRG_311:g.93804_93808del
NC_000010.10:g.89711999_89712003del
NM_000314.6:c.617_621delTCAGT
p.Phe206Trpfs*35

Protein change:

F206fs

Links:

dbSNP: rs1085308055

NCBI 1000 Genomes Browser:

rs1085308055

Molecular consequence:

NM_000314.8:c.617_621del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001304717.5:c.1136_1140del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001304718.2:c.26_30del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000579283	Herman Laboratory, Nationwide Children's Hospital	criteria provided, single submitter (Hansen-Kiss et al. (J Med Genet. 2017))	Pathogenic (Mar 1, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000579283

Herman Laboratory, Nationwide Children's Hospital

criteria provided, single submitter

(Hansen-Kiss et al. (J Med Genet. 2017))

Pathogenic
(Mar 1, 2017)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	unknown	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.

Hansen-Kiss E, Beinkampen S, Adler B, Frazier T, Prior T, Erdman S, Eng C, Herman G.

J Med Genet. 2017 Jul;54(7):471-478. doi: 10.1136/jmedgenet-2016-104484. Epub 2017 May 19.

PubMed [citation]

PMID:: 28526761

Details of each submission

From Herman Laboratory, Nationwide Children's Hospital, SCV000579283.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian	1	not provided	not provided	clinical testing	PubMed (1)

Description

Macrocephaly (+3.9 SD)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	1	Blood	not provided		1	not provided	not provided	not provided

Last Updated: Oct 21, 2023

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