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NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) AND Arrhythmogenic right ventricular dysplasia 9

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000491072.3

Allele description [Variation Report for NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)]

NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)

Genes:
CEP85L:centrosomal protein 85 like [Gene - OMIM - HGNC]
PLN:phospholamban [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
6q22.31
Genomic location:
Preferred name:
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)
HGVS:
  • NC_000006.11:g.118880120_118880122del
  • NC_000006.12:g.118558958AGA[1]
  • NG_009082.1:g.15680AGA[1]
  • NG_021248.1:g.156114CTT[1]
  • NM_001042475.3:c.1020+6570_1020+6572delMANE SELECT
  • NM_001178035.2:c.1029+6570_1029+6572del
  • NM_002667.5:c.36_38delAAG
  • NM_002667.5:c.37AGA[1]MANE SELECT
  • NM_206921.3:c.1020+6570_1020+6572del
  • NP_002658.1:p.Arg14del
  • NP_002658.1:p.Arg14del
  • LRG_390t1:c.37_39AGA[1]
  • LRG_390:g.15680AGA[1]
  • LRG_390p1:p.Arg14del
  • NC_000006.11:g.118880120_118880122del
  • NC_000006.11:g.118880121AGA[1]
  • NC_000006.11:g.118880124_118880126delAGA
  • NC_000006.12:g.118558961_118558963del
  • NM_002667.3:c.37_39AGA[1]
  • NM_002667.3:c.40_42del
  • NM_002667.3:c.40_42delAGA
  • NM_002667.3:c.40_42delAGA
  • NM_002667.4:c.36_38del
  • NM_002667.4:c.40_42del
  • NM_002667.4:c.40_42delAGA
  • NM_002667.5:c.36_38delAAGMANE SELECT
  • NM_002667.5:c.40_42delMANE SELECT
  • c.40_42delAGA
  • p.R14del
Protein change:
R14del
Links:
OMIM: 172405.0003; dbSNP: rs397516784
NCBI 1000 Genomes Browser:
rs397516784
Molecular consequence:
  • NM_002667.5:c.37AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001042475.3:c.1020+6570_1020+6572del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001178035.2:c.1029+6570_1029+6572del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_206921.3:c.1020+6570_1020+6572del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
2

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000298153Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen
no assertion criteria provided
Pathogenic
(May 1, 2016) 		inheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes2not providednot providednot providednot providedclinical testing

Details of each submission

From Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen, SCV000298153.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 20, 2024