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NM_002667.5(PLN):c.148A>C (p.Met50Leu) AND Cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 19, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000770227.2

Allele description [Variation Report for NM_002667.5(PLN):c.148A>C (p.Met50Leu)]

NM_002667.5(PLN):c.148A>C (p.Met50Leu)

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.148A>C (p.Met50Leu)
HGVS:
  • NC_000006.12:g.118559069A>C
  • NG_009082.1:g.15791A>C
  • NG_021248.1:g.156007T>G
  • NM_001042475.3:c.1020+6460T>GMANE SELECT
  • NM_001178035.2:c.1029+6460T>G
  • NM_002667.5:c.148A>CMANE SELECT
  • NM_206921.3:c.1020+6460T>G
  • NP_002658.1:p.Met50Leu
  • NP_002658.1:p.Met50Leu
  • LRG_390t1:c.148A>C
  • LRG_390:g.15791A>C
  • LRG_390p1:p.Met50Leu
  • NC_000006.11:g.118880232A>C
  • NM_002667.3:c.148A>C
  • NM_002667.4:c.148A>C
Protein change:
M50L
Links:
dbSNP: rs757797900
NCBI 1000 Genomes Browser:
rs757797900
Molecular consequence:
  • NM_001042475.3:c.1020+6460T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001178035.2:c.1029+6460T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_206921.3:c.1020+6460T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002667.5:c.148A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000901658CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 19, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository, SCV000901658.1

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

Last Updated: Sep 1, 2024