NM_002667.5(PLN):c.87G>T (p.Gln29His) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 11, 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:: RCV003368294.2

Allele description [Variation Report for NM_002667.5(PLN):c.87G>T (p.Gln29His)]

NM_002667.5(PLN):c.87G>T (p.Gln29His)

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.87G>T (p.Gln29His)

HGVS:

NC_000006.12:g.118559008G>T
NG_009082.1:g.15730G>T
NG_021248.1:g.156068C>A
NM_001042475.3:c.1020+6521C>AMANE SELECT
NM_001178035.2:c.1029+6521C>A
NM_002667.5:c.87G>TMANE SELECT
NM_206921.3:c.1020+6521C>A
NP_002658.1:p.Gln29His
NP_002658.1:p.Gln29His
LRG_390t1:c.87G>T
LRG_390:g.15730G>T
LRG_390p1:p.Gln29His
NC_000006.11:g.118880171G>T
NM_002667.3:c.87G>T

Protein change:

Q29H

Molecular consequence:

NM_001042475.3:c.1020+6521C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001178035.2:c.1029+6521C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_206921.3:c.1020+6521C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_002667.5:c.87G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004054934	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 11, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004054934

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 11, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004054934.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.Q29H variant (also known as c.87G>T), located in coding exon 1 of the PLN gene, results from a G to T substitution at nucleotide position 87. The glutamine at codon 29 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 1, 2024

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