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

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Aug 5, 2020
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:
RCV000038704.15

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:
6

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000062382Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Benign
(Aug 5, 2020) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV000611493Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 23, 2017) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown66not providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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
See all PubMed Citations (4)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000062382.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedclinical testing PubMed (3)

Description

The p.Gly202Arg variant in NEBL is classified as benign because it has been identified in 0.3% (24/7206) of Ashkenazi Jewish and in 0.2% (361/128806) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided6not provided6not provided

From Fulgent Genetics, Fulgent Genetics, SCV000611493.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024