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NM_002667.5(PLN):c.132_152dup (p.Leu51_Leu52insIleCysIleIleValMetLeu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 21, 2020
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:
RCV001575715.3

Allele description [Variation Report for NM_002667.5(PLN):c.132_152dup (p.Leu51_Leu52insIleCysIleIleValMetLeu)]

NM_002667.5(PLN):c.132_152dup (p.Leu51_Leu52insIleCysIleIleValMetLeu)

Genes:
CEP85L:centrosomal protein 85 like [Gene - OMIM - HGNC]
PLN:phospholamban [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6q22.31
Genomic location:
Preferred name:
NM_002667.5(PLN):c.132_152dup (p.Leu51_Leu52insIleCysIleIleValMetLeu)
HGVS:
  • NC_000006.12:g.118559053_118559073dup
  • NG_009082.1:g.15775_15795dup
  • NG_021248.1:g.156007_156027dup
  • NM_001042475.3:c.1020+6460_1020+6480dupMANE SELECT
  • NM_001178035.2:c.1029+6460_1029+6480dup
  • NM_002667.5:c.132_152dupMANE SELECT
  • NM_206921.3:c.1020+6460_1020+6480dup
  • NP_002658.1:p.Leu51_Leu52insIleCysIleIleValMetLeu
  • NP_002658.1:p.Leu51_Leu52insIleCysIleIleValMetLeu
  • LRG_390t1:c.132_152dup
  • LRG_390:g.15775_15795dup
  • LRG_390p1:p.Leu51_Leu52insIleCysIleIleValMetLeu
  • NC_000006.11:g.118880211_118880212insTGCTGATCTGTATCATCGTGA
  • NC_000006.11:g.118880216_118880236dup
  • NM_002667.3:c.132_152dup
  • NM_002667.3:c.132_152dupGATCTGTATCATCGTGATGCT
Links:
dbSNP: rs1554219865
NCBI 1000 Genomes Browser:
rs1554219865
Molecular consequence:
  • NM_002667.5:c.132_152dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001042475.3:c.1020+6460_1020+6480dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001178035.2:c.1029+6460_1029+6480dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_206921.3:c.1020+6460_1020+6480dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001802764GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jan 21, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV001802764.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In-frame insertion of seven amino acids in a non-repeat region

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

Last Updated: Sep 29, 2024