NM_000314.8(PTEN):c.752G>A (p.Gly251Asp) AND Cowden syndrome 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 1, 2020
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:: RCV001374613.1

Allele description [Variation Report for NM_000314.8(PTEN):c.752G>A (p.Gly251Asp)]

NM_000314.8(PTEN):c.752G>A (p.Gly251Asp)

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.752G>A (p.Gly251Asp)

HGVS:

NC_000010.11:g.87957970G>A
NG_007466.2:g.99532G>A
NM_000314.5:c.752G>A
NM_000314.8:c.752G>AMANE SELECT
NM_001304717.5:c.1271G>A
NM_001304718.2:c.161G>A
NP_000305.3:p.Gly251Asp
NP_001291646.4:p.Gly424Asp
NP_001291647.1:p.Gly54Asp
LRG_311t1:c.752G>A
LRG_311:g.99532G>A
NC_000010.10:g.89717727G>A
NM_000314.4:c.752G>A
NM_000314.6:c.752G>A

Protein change:

G251D

Links:

dbSNP: rs1554825226

NCBI 1000 Genomes Browser:

rs1554825226

Molecular consequence:

NM_000314.8:c.752G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001304717.5:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001304718.2:c.161G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001571459	UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill - CSER_NCGENES	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 1, 2020)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001571459

UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill - CSER_NCGENES

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 1, 2020)

germline

research

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
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	research

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 UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill - CSER_NCGENES, SCV001571459.1

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

Description

The PTEN c.752G>A (p.Gly251Asp) missense variant alters a single amino acid in exon 7 of 9 of the encoded protein. To our knowledge, this variant has not been previously reported by germline testing in individuals with Cowden syndrome in the scientific literature. This is a rare variant that is absent from large population studies, such as the Genome Aggregation Database (gnomAD). Computational prediction tools and conservation analysis predict a deleterious impact to protein function, but this information is not sufficient to prove pathogenicity. Without further information, this variant is considered a variant of uncertain significance.

#	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		1	not provided	not provided	not provided

Last Updated: Apr 6, 2024

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