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NM_002667.5(PLN):c.144C>T (p.Ile48=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 29, 2023
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:
RCV004027745.1

Allele description [Variation Report for NM_002667.5(PLN):c.144C>T (p.Ile48=)]

NM_002667.5(PLN):c.144C>T (p.Ile48=)

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.144C>T (p.Ile48=)
HGVS:
  • NC_000006.12:g.118559065C>T
  • NG_009082.1:g.15787C>T
  • NG_021248.1:g.156011G>A
  • NM_001042475.3:c.1020+6464G>AMANE SELECT
  • NM_001178035.2:c.1029+6464G>A
  • NM_002667.5:c.144C>TMANE SELECT
  • NM_206921.3:c.1020+6464G>A
  • NP_002658.1:p.Ile48=
  • NP_002658.1:p.Ile48=
  • LRG_390t1:c.144C>T
  • LRG_390:g.15787C>T
  • LRG_390p1:p.Ile48=
  • NC_000006.11:g.118880228C>T
  • NM_002667.3:c.144C>T
  • NM_002667.4:c.144C>T
Links:
dbSNP: rs141114252
NCBI 1000 Genomes Browser:
rs141114252
Molecular consequence:
  • NM_001042475.3:c.1020+6464G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001178035.2:c.1029+6464G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_206921.3:c.1020+6464G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002667.5:c.144C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005019802Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 29, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005019802.1

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 13, 2024