NM_002709.3(PPP1CB):c.201A>G (p.Gln67=) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Apr 4, 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:: RCV000825640.5

Allele description [Variation Report for NM_002709.3(PPP1CB):c.201A>G (p.Gln67=)]

NM_002709.3(PPP1CB):c.201A>G (p.Gln67=)

Gene:

PPP1CB:protein phosphatase 1 catalytic subunit beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.2

Genomic location:

Preferred name:

NM_002709.3(PPP1CB):c.201A>G (p.Gln67=)

Other names:

NM_002709.3(PPP1CB):c.201A>G; p.Gln67=

HGVS:

NC_000002.12:g.28778825A>G
NG_052878.1:g.32078A>G
NM_002709.3:c.201A>GMANE SELECT
NM_206876.2:c.201A>G
NP_002700.1:p.Gln67=
NP_996759.1:p.Gln67=
NP_996759.1:p.Gln67=
NC_000002.11:g.29001691A>G
NM_002709.2:c.201A>G
NM_206876.1:c.201A>G
p.Gln67Gln

Links:

dbSNP: rs1128416

NCBI 1000 Genomes Browser:

rs1128416

Molecular consequence:

NM_002709.3:c.201A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_206876.2:c.201A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000967010	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Mar 12, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003929299	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Benign (Apr 4, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000967010

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Mar 12, 2018)

germline

clinical testing

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

SCV003929299

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Benign
(Apr 4, 2023)

germline

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	germline	not provided	31	30	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000967010.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	31	not provided	not provided	clinical testing	PubMed (1)

Description

p.Asp58Asp in exon 4 of p.Gln67Gln: This variant is not expected to have clinica l significance because it has been identified in 60.975% (77029/126328) of Europ ean chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadi nstitute.org; dbSNP rs1128416). ACMG/AMP Criteria applied: BA1.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		31	not provided	30	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003929299.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 16, 2025

ClinVar

Relating variation to medicine