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NM_001042475.3(CEP85L):c.1020+17275G>C AND Hypertrophic cardiomyopathy 18

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2007
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:
RCV000022714.35

Allele description [Variation Report for NM_001042475.3(CEP85L):c.1020+17275G>C]

NM_001042475.3(CEP85L):c.1020+17275G>C

Genes:
PLN:phospholamban [Gene - OMIM - HGNC]
CEP85L:centrosomal protein 85 like [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q22.31
Genomic location:
Preferred name:
NM_001042475.3(CEP85L):c.1020+17275G>C
HGVS:
  • NC_000006.12:g.118548254C>G
  • NG_009082.1:g.4976C>G
  • NG_021248.1:g.166822G>C
  • NM_001042475.3:c.1020+17275G>CMANE SELECT
  • NM_001178035.2:c.1029+17275G>C
  • NM_002667.5:c.-236C>GMANE SELECT
  • NM_206921.3:c.1020+17275G>C
  • LRG_390t1:c.-236C>G
  • LRG_390:g.4976C>G
  • NC_000006.11:g.118869417C>G
  • NM_002667.3:c.-236C>G
Nucleotide change:
-42C-G
Links:
OMIM: 172405.0005; dbSNP: rs188578681
NCBI 1000 Genomes Browser:
rs188578681
Molecular consequence:
  • NM_001042475.3:c.1020+17275G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001178035.2:c.1029+17275G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_206921.3:c.1020+17275G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002667.5:c.-236C>G - upstream transcript variant - [Sequence Ontology: SO:0001986]

Condition(s)

Name:
Hypertrophic cardiomyopathy 18
Synonyms:
Familial hypertrophic cardiomyopathy 18
Identifiers:
MONDO: MONDO:0013475; MedGen: C3151265; OMIM: 613874

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044003OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2007) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutational screening of phospholamban gene in hypertrophic and idiopathic dilated cardiomyopathy and functional study of the PLN -42 C>G mutation.

Medin M, Hermida-Prieto M, Monserrat L, Laredo R, Rodriguez-Rey JC, Fernandez X, Castro-Beiras A.

Eur J Heart Fail. 2007 Jan;9(1):37-43. Epub 2006 Jul 7.

PubMed [citation]
PMID:
16829191

Details of each submission

From OMIM, SCV000044003.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In an 85-year-old woman who was diagnosed with apical hypertrophic cardiomyopathy (CMH18; 613874) at 67 years of age, Medin et al. (2007) identified heterozygosity for a -42C-G transversion n the promoter region of the PLN gene that was not found in more than 100 control subjects. Mutations in 6 other known CMH genes were excluded in the proband. Transfection studies in the C6 glioma cell line and C2C12 muscle cells demonstrated a 43% and 47% decrease in transcriptional activity compared to wildtype, respectively. The proband's brother was diagnosed with apical CMH at 72 years of age and died suddenly at age 81 years. Screening of the proband's 3 asymptomatic sons revealed that 1 had apical hypertrophic cardiomyopathy with mild hypertrophy at age 59 years; the other 2 had normal electro- and echocardiograms. The affected son and a 55-year-old asymptomatic son were also heterozygous for the -42C-G mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024