NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del) AND Arrhythmogenic right ventricular dysplasia 9

Clinical significance:Uncertain significance (Last evaluated: May 1, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000491718.2

Allele description [Variation Report for NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del)]

NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del)

Gene:
NEXN:nexilin F-actin binding protein [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del)
HGVS:
  • NC_000001.11:g.77935972AGA[2]
  • NC_000001.11:g.77935976_77935978del
  • NG_016625.1:g.52458AGA[2]
  • NM_001172309.2:c.1209AGA[2]
  • NM_144573.4:c.1401AGA[2]MANE SELECT
  • NP_001165780.1:p.Glu406del
  • NP_653174.3:p.Glu470del
  • LRG_442t1:c.1407_1409del
  • LRG_442:g.52458AGA[2]
  • NC_000001.10:g.78401657AGA[2]
  • NC_000001.10:g.78401657_78401659del
  • NM_144573.3:c.1405_1407delGAA
  • NM_144573.3:c.1407_1409del
  • NM_144573.3:c.1407_1409delAGA
  • c.1407_1409delAGA
Protein change:
E406del
Links:
dbSNP: rs397517846
NCBI 1000 Genomes Browser:
rs397517846
Molecular consequence:
  • NM_001172309.2:c.1209AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_144573.4:c.1401AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
1

Condition(s)

Name:
Arrhythmogenic right ventricular dysplasia 9 (ARVD9)
Synonyms:
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; Arrhythmogenic right ventricular cardiomyopathy, type 9; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9
Identifiers:
MONDO: MONDO:0012180; MedGen: C1836906; OMIM: 609040

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000298157Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalenno assertion criteria providedUncertain significance
(May 1, 2016)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen, SCV000298157.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 6, 2021

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