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NM_002667.5(PLN):c.51C>A (p.Thr17=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 5, 2024
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:
RCV004654275.1

Allele description [Variation Report for NM_002667.5(PLN):c.51C>A (p.Thr17=)]

NM_002667.5(PLN):c.51C>A (p.Thr17=)

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.51C>A (p.Thr17=)
HGVS:
  • NC_000006.12:g.118558972C>A
  • NG_009082.1:g.15694C>A
  • NG_021248.1:g.156104G>T
  • NM_001042475.3:c.1020+6557G>TMANE SELECT
  • NM_001178035.2:c.1029+6557G>T
  • NM_002667.5:c.51C>AMANE SELECT
  • NM_206921.3:c.1020+6557G>T
  • NP_002658.1:p.Thr17=
  • NP_002658.1:p.Thr17=
  • LRG_390t1:c.51C>A
  • LRG_390:g.15694C>A
  • LRG_390p1:p.Thr17=
  • NC_000006.11:g.118880135C>A
  • NM_002667.3:c.51C>A
Molecular consequence:
  • NM_001042475.3:c.1020+6557G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001178035.2:c.1029+6557G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_206921.3:c.1020+6557G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002667.5:c.51C>A - 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
SCV005147281Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(May 5, 2024) 		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, SCV005147281.1

#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: Sep 29, 2024