NM_006393.3(NEBL):c.604G>A (p.Gly202Arg) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (5 submissions)
Last evaluated:: Aug 1, 2022
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:: RCV000723614.21

Allele description [Variation Report for NM_006393.3(NEBL):c.604G>A (p.Gly202Arg)]

NM_006393.3(NEBL):c.604G>A (p.Gly202Arg)

Gene:

NEBL:nebulette [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p12.31

Genomic location:

Preferred name:

NM_006393.3(NEBL):c.604G>A (p.Gly202Arg)

Other names:

p.G202R:GGA>AGA

HGVS:

NC_000010.11:g.20868744C>T
NG_017092.1:g.310444G>A
NM_001173484.2:c.358-55804G>A
NM_001377322.1:c.358-55804G>A
NM_001377323.1:c.310-55804G>A
NM_001377324.1:c.301-55804G>A
NM_001377325.1:c.292-55804G>A
NM_001377326.1:c.250-55804G>A
NM_001377327.1:c.250-55804G>A
NM_001377328.1:c.250-55804G>A
NM_006393.3:c.604G>AMANE SELECT
NM_213569.2:c.358-55804G>A
NP_006384.1:p.Gly202Arg
NP_006384.1:p.Gly202Arg
LRG_411t1:c.358-55804G>A
LRG_411t2:c.604G>A
LRG_411:g.310444G>A
LRG_411p2:p.Gly202Arg
NC_000010.10:g.21157673C>T
NM_006393.2:c.604G>A
c.604G>A

Protein change:

G202R

Links:

dbSNP: rs137973321

NCBI 1000 Genomes Browser:

rs137973321

Molecular consequence:

NM_001173484.2:c.358-55804G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001377322.1:c.358-55804G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001377323.1:c.310-55804G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001377324.1:c.301-55804G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001377325.1:c.292-55804G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001377326.1:c.250-55804G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001377327.1:c.250-55804G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001377328.1:c.250-55804G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_213569.2:c.358-55804G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_006393.3:c.604G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000236092	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jan 13, 2021)	germline	clinical testing	Citation Link,
SCV000331388	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Jul 14, 2015)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20951326, 23632046 Citation Link,
SCV001932407	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
SCV001971783	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
SCV004126536	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Aug 1, 2022)	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	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis.

Purevjav E, Varela J, Morgado M, Kearney DL, Li H, Taylor MD, Arimura T, Moncman CL, McKenna W, Murphy RT, Labeit S, Vatta M, Bowles NE, Kimura A, Boriek AM, Towbin JA.

J Am Coll Cardiol. 2010 Oct 26;56(18):1493-502. doi: 10.1016/j.jacc.2010.05.045.

PubMed [citation]

PMID:: 20951326
PMCID:: PMC2957670

Altered regional cardiac wall mechanics are associated with differential cardiomyocyte calcium handling due to nebulette mutations in preclinical inherited dilated cardiomyopathy.

Maiellaro-Rafferty K, Wansapura JP, Mendsaikhan U, Osinska H, James JF, Taylor MD, Robbins J, Kranias EG, Towbin JA, Purevjav E.

J Mol Cell Cardiol. 2013 Jul;60:151-60. doi: 10.1016/j.yjmcc.2013.04.021. Epub 2013 Apr 28.

PubMed [citation]

PMID:: 23632046
PMCID:: PMC3683841

Details of each submission

From GeneDx, SCV000236092.11

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

Description

Reported in one individual with adult-onset DCM, one individual with HCM, and one stillbirth case in published literature (Purevjav et al., 2010; Perrot et al., 2016; Sahlin et al., 2019); however, no segregation studies were described; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 45499; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 25987543, 23299917, 25353622, 27186169, 27171814, 27301361, 20951326, 27896284, 21430528, 28654958, 30615648, 23632046)

#	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 Eurofins Ntd Llc (ga), SCV000331388.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (2)

#	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		2	not provided	not provided	not provided

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001932407.1

#	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, SCV001971783.1

#	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 CeGaT Center for Human Genetics Tuebingen, SCV004126536.10

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

Description

NEBL: BP4, BS1, BS2

#	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

Last Updated: Oct 20, 2024

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