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

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Apr 27, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000183818.7

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
LRG_390t1:c.40_42del
LRG_390:g.15680AGA[1]
NC_000006.11:g.118880120_118880122del
NC_000006.11:g.118880121AGA[1]
NC_000006.11:g.118880124_118880126delAGA
NM_002667.3:c.40_42del
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:

Condition(s)

Name:: Cardiomyopathy (CMYO)
Synonyms:: Cardiomyopathies
Identifiers:: MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000207162	Blueprint Genetics	criteria provided, single submitter (Variant Classification)	Pathogenic (Nov 27, 2014)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 16432188, 22820313, 23785128 Citation Link,
SCV002043208	CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 27, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000207162

Blueprint Genetics

criteria provided, single submitter

(Variant Classification)

Pathogenic
(Nov 27, 2014)

germline

clinical testing

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

Citation Link,

SCV002043208

CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 27, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.

Haghighi K, Kolokathis F, Gramolini AO, Waggoner JR, Pater L, Lynch RA, Fan GC, Tsiapras D, Parekh RR, Dorn GW 2nd, MacLennan DH, Kremastinos DT, Kranias EG.

Proc Natl Acad Sci U S A. 2006 Jan 31;103(5):1388-93. Epub 2006 Jan 23.

PubMed [citation]

PMID:: 16432188
PMCID:: PMC1360586

Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.

van der Zwaag PA, van Rijsingen IA, Asimaki A, Jongbloed JD, van Veldhuisen DJ, Wiesfeld AC, Cox MG, van Lochem LT, de Boer RA, Hofstra RM, Christiaans I, van Spaendonck-Zwarts KY, Lekanne dit Deprez RH, Judge DP, Calkins H, Suurmeijer AJ, Hauer RN, Saffitz JE, Wilde AA, van den Berg MP, van Tintelen JP.

Eur J Heart Fail. 2012 Nov;14(11):1199-207. doi: 10.1093/eurjhf/hfs119. Epub 2012 Jul 20.

PubMed [citation]

PMID:: 22820313
PMCID:: PMC3475434

See all PubMed Citations (4)

Details of each submission

From Blueprint Genetics, SCV000207162.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	PubMed (3)

#	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		3	not provided	not provided	not provided

From CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario, SCV002043208.3

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

#	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		not provided	not provided	not provided	not provided

Last Updated: May 19, 2024

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