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NM_002667.5(PLN):c.116T>G (p.Leu39Ter) AND Sudden cardiac death

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 14, 2014
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:
RCV000157419.1

Allele description [Variation Report for NM_002667.5(PLN):c.116T>G (p.Leu39Ter)]

NM_002667.5(PLN):c.116T>G (p.Leu39Ter)

Genes:
CEP85L:centrosomal protein 85 like [Gene - OMIM - HGNC]
PLN:phospholamban [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q22.31
Genomic location:
Preferred name:
NM_002667.5(PLN):c.116T>G (p.Leu39Ter)
HGVS:
  • NC_000006.12:g.118559037T>G
  • NG_009082.1:g.15759T>G
  • NG_021248.1:g.156039A>C
  • NM_001042475.3:c.1020+6492A>CMANE SELECT
  • NM_001178035.2:c.1029+6492A>C
  • NM_002667.5:c.116T>GMANE SELECT
  • NM_206921.3:c.1020+6492A>C
  • NP_002658.1:p.Leu39Ter
  • NP_002658.1:p.Leu39Ter
  • LRG_390t1:c.116T>G
  • LRG_390:g.15759T>G
  • LRG_390p1:p.Leu39Ter
  • NC_000006.11:g.118880200T>G
  • NM_002667.3:c.116T>G
  • NM_002667.4:c.116T>G
  • p.Leu39X
Protein change:
L39*; LEU39TER
Links:
OMIM: 172405.0002; dbSNP: rs111033560
NCBI 1000 Genomes Browser:
rs111033560
Molecular consequence:
  • NM_001042475.3:c.1020+6492A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001178035.2:c.1029+6492A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_206921.3:c.1020+6492A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002667.5:c.116T>G - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Sudden cardiac death (SCD)
Synonyms:
Sudden adult death syndrome
Identifiers:
EFO: EFO_0004278; MeSH: D016757; MedGen: C0085298; Human Phenotype Ontology: HP:0001645

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000207160Blueprint Genetics
no assertion criteria provided
Likely pathogenic
(Oct 14, 2014) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human.

Haghighi K, Kolokathis F, Pater L, Lynch RA, Asahi M, Gramolini AO, Fan GC, Tsiapras D, Hahn HS, Adamopoulos S, Liggett SB, Dorn GW 2nd, MacLennan DH, Kremastinos DT, Kranias EG.

J Clin Invest. 2003 Mar;111(6):869-76.

PubMed [citation]
PMID:
12639993
PMCID:
PMC153772

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program.

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]
PMID:
23861362
PMCID:
PMC3887521

Details of each submission

From Blueprint Genetics, SCV000207160.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 22, 2024