NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer) AND Cowden syndrome 1

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Oct 2, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000144657.2

Allele description [Variation Report for NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer)]

NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer)

Gene:

PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

10q23.31

Genomic location:

Preferred name:

NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer)

HGVS:

NC_000010.11:g.87961043ACTT[1]
NG_007466.2:g.102605ACTT[1]
NM_000314.8:c.955_958delMANE SELECT
NM_001304717.5:c.1474_1477del
NM_001304718.2:c.364_367del
NP_000305.3:p.Leu318_Thr319insTer
NP_001291646.4:p.Leu491_Thr492insTer
NP_001291647.1:p.Leu121_Thr122insTer
LRG_311t1:c.955_958del
LRG_311:g.102605ACTT[1]
NC_000010.10:g.89720799_89720802del
NC_000010.10:g.89720800ACTT[1]
NC_000010.9:g.89710784_89710787delACTT
NM_000314.4:c.955_958del
NM_000314.4:c.955_958delACTT
NM_000314.6:c.955_958delACTT
NM_000314.8:c.955_958delACTTMANE SELECT
p.Thr319*

Links:

dbSNP: rs146650273

NCBI 1000 Genomes Browser:

rs146650273

Molecular consequence:

NM_000314.8:c.955_958del - nonsense - [Sequence Ontology: SO:0001587]
NM_001304717.5:c.1474_1477del - nonsense - [Sequence Ontology: SO:0001587]
NM_001304718.2:c.364_367del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Cowden syndrome 1 (CWS1)
Identifiers:: MONDO: MONDO:0008021; MedGen: CN072330; OMIM: 158350

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000189984	Pathway Genomics	no assertion criteria provided	Pathogenic (Jul 24, 2014)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 9288766, 10400993, 21194675, 23335809
SCV004027681	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 26, 2023)	paternal	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004189590	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Oct 2, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000189984

Pathway Genomics

no assertion criteria provided

Pathogenic
(Jul 24, 2014)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV004027681

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 26, 2023)

paternal

clinical testing

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

SCV004189590

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Pathogenic
(Oct 2, 2023)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas.

Rhei E, Kang L, Bogomolniy F, Federici MG, Borgen PI, Boyd J.

Cancer Res. 1997 Sep 1;57(17):3657-9.

PubMed [citation]

PMID:: 9288766

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM Jr, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, et al.

Hum Mol Genet. 1999 Aug;8(8):1461-72.

PubMed [citation]

PMID:: 10400993

See all PubMed Citations (5)

Details of each submission

From Pathway Genomics, SCV000189984.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

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

From Institute of Human Genetics, University of Leipzig Medical Center, SCV004027681.1

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

Description

Criteria applied: PVS1,PS4,PM2_SUP

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

From Myriad Genetics, Inc., SCV004189590.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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

Last Updated: Apr 6, 2024

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