NM_201384.3(PLEC):c.9333G>A (p.Gly3111=) AND not provided

Germline classification:: Conflicting classifications of pathogenicity (5 submissions)
Last evaluated:: Jun 8, 2021
Review status:: criteria provided, conflicting classifications

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:: RCV000512985.16

Allele description [Variation Report for NM_201384.3(PLEC):c.9333G>A (p.Gly3111=)]

NM_201384.3(PLEC):c.9333G>A (p.Gly3111=)

Gene:

PLEC:plectin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_201384.3(PLEC):c.9333G>A (p.Gly3111=)

HGVS:

NC_000008.11:g.143920488C>T
NG_012492.1:g.61258G>A
NM_000445.5:c.9414G>A
NM_201378.4:c.9291G>A
NM_201379.3:c.9267G>A
NM_201380.4:c.9744G>A
NM_201381.3:c.9237G>A
NM_201382.4:c.9333G>A
NM_201383.3:c.9345G>A
NM_201384.3:c.9333G>AMANE SELECT
NP_000436.2:p.Gly3138=
NP_958780.1:p.Gly3097=
NP_958781.1:p.Gly3089=
NP_958782.1:p.Gly3248=
NP_958783.1:p.Gly3079=
NP_958784.1:p.Gly3111=
NP_958785.1:p.Gly3115=
NP_958786.1:p.Gly3111=
NC_000008.10:g.144994656C>T
NM_000445.3:c.9414G>A
NM_000445.4:c.9414G>A
p.Gly3138Gly

Links:

dbSNP: rs188739870

NCBI 1000 Genomes Browser:

rs188739870

Molecular consequence:

NM_000445.5:c.9414G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_201378.4:c.9291G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_201379.3:c.9267G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_201380.4:c.9744G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_201381.3:c.9237G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_201382.4:c.9333G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_201383.3:c.9345G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_201384.3:c.9333G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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
SCV000609325	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)	Uncertain significance (Mar 31, 2017)	germline	clinical testing	Citation Link,
SCV000723250	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jun 8, 2021)	germline	clinical testing	Citation Link,
SCV001742997	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001927963	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001975597	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV000609325.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

From GeneDx, SCV000723250.3

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001742997.3

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001927963.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001975597.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 16, 2025

ClinVar

Relating variation to medicine

NM_201384.3(PLEC):c.9333G>A (p.Gly3111=) AND not provided

Allele description [Variation Report for NM_201384.3(PLEC):c.9333G>A (p.Gly3111=)]

NM_201384.3(PLEC):c.9333G>A (p.Gly3111=)

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV000609325.5

From GeneDx, SCV000723250.3

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001742997.3

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001927963.1

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001975597.1