NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter) AND Cowden syndrome 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 25, 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:: RCV001809711.2

Allele description [Variation Report for NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter)]

NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.31

Genomic location:

Preferred name:

NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter)

HGVS:

NC_000010.11:g.87864517T>G
NG_007466.2:g.6079T>G
NG_033079.1:g.3921A>C
NM_000314.8:c.48T>GMANE SELECT
NM_001304717.5:c.567T>G
NM_001304718.2:c.-658T>G
NP_000305.3:p.Tyr16Ter
NP_001291646.4:p.Tyr189Ter
LRG_311t1:c.48T>G
LRG_1087:g.3921A>C
LRG_311:g.6079T>G
NC_000010.10:g.89624274T>G
NM_000314.4:c.48T>G
p.Tyr16X

Protein change:

Y16*

Links:

dbSNP: rs587782187

NCBI 1000 Genomes Browser:

rs587782187

Molecular consequence:

NM_001304718.2:c.-658T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000314.8:c.48T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001304717.5:c.567T>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

Recent activity

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conserved unknown protein [Ectocarpus siliculosus]
conserved unknown protein [Ectocarpus siliculosus]
gi|298705608|emb|CBJ28859.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002059853	Centogene AG - the Rare Disease Company	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 12, 2021)	somatic	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004188850	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Sep 25, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002059853

Centogene AG - the Rare Disease Company

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 12, 2021)

somatic

clinical testing

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

SCV004188850

Myriad Genetics, Inc.

criteria provided, single submitter

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

Pathogenic
(Sep 25, 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	somatic	unknown	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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Centogene AG - the Rare Disease Company, SCV002059853.1

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

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

From Myriad Genetics, Inc., SCV004188850.1

#	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: Sep 29, 2024

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