NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly) AND Cowden syndrome 1

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Apr 5, 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:: RCV000410573.13

Allele description [Variation Report for NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly)]

NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly)

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.1078A>G (p.Ser360Gly)

Other names:

NM_000314.4(PTEN):c.1078A>G

HGVS:

NC_000010.11:g.87965338A>G
NG_007466.2:g.106900A>G
NM_000314.8:c.1078A>GMANE SELECT
NM_001304717.5:c.1597A>G
NM_001304718.2:c.487A>G
NP_000305.3:p.Ser360Gly
NP_001291646.4:p.Ser533Gly
NP_001291647.1:p.Ser163Gly
LRG_311t1:c.1078A>G
LRG_311:g.106900A>G
NC_000010.10:g.89725095A>G
NM_000314.4:c.1078A>G
NM_000314.6:c.1078A>G
p.S360G

Protein change:

S163G

Links:

dbSNP: rs587781273

NCBI 1000 Genomes Browser:

rs587781273

Molecular consequence:

NM_000314.8:c.1078A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001304717.5:c.1597A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001304718.2:c.487A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

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

Recent activity

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EFCAB12 EF-hand calcium binding domain 12 [Homo sapiens]
EFCAB12 EF-hand calcium binding domain 12 [Homo sapiens]
Gene ID:90288

Gene
Gene Links for GEO Profiles (Select 116363393) (1)
Gene
ATP2C1 ATPase secretory pathway Ca2+ transporting 1 [Homo sapiens]
ATP2C1 ATPase secretory pathway Ca2+ transporting 1 [Homo sapiens]
Gene ID:27032

Gene
Gene Links for GEO Profiles (Select 116342118) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000487947	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Dec 4, 2015)	unknown	clinical testing	Counsyl Autosomal Dominant Disease Classification criteria (2015), Citation Link,
SCV002581064	MGZ Medical Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 20, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004019951	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Uncertain significance (Apr 5, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000487947

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Dec 4, 2015)

unknown

clinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV002581064

MGZ Medical Genetics Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 20, 2022)

germline

clinical testing

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

SCV004019951

Myriad Genetics, Inc.

criteria provided, single submitter

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

Uncertain significance
(Apr 5, 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	yes	1	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 Counsyl, SCV000487947.2

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

#	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

From MGZ Medical Genetics Center, SCV002581064.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Myriad Genetics, Inc., SCV004019951.1

#	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 classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

#	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: Oct 26, 2024

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