NM_002667.5(PLN):c.35T>C (p.Ile12Thr) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 15, 2018
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:: RCV002455196.2

Allele description [Variation Report for NM_002667.5(PLN):c.35T>C (p.Ile12Thr)]

NM_002667.5(PLN):c.35T>C (p.Ile12Thr)

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.35T>C (p.Ile12Thr)

HGVS:

NC_000006.12:g.118558956T>C
NG_009082.1:g.15678T>C
NG_021248.1:g.156120A>G
NM_001042475.3:c.1020+6573A>GMANE SELECT
NM_001178035.2:c.1029+6573A>G
NM_002667.5:c.35T>CMANE SELECT
NM_206921.3:c.1020+6573A>G
NP_002658.1:p.Ile12Thr
NP_002658.1:p.Ile12Thr
LRG_390t1:c.35T>C
LRG_390:g.15678T>C
LRG_390p1:p.Ile12Thr
NC_000006.11:g.118880119T>C
NM_002667.3:c.35T>C

Protein change:

I12T

Molecular consequence:

NM_001042475.3:c.1020+6573A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001178035.2:c.1029+6573A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_206921.3:c.1020+6573A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_002667.5:c.35T>C - 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
SCV002617388	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 15, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002617388

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 15, 2018)

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, SCV002617388.2

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

Description

The p.I12T variant (also known as c.35T>C), located in coding exon 1 of the PLN gene, results from a T to C substitution at nucleotide position 35. The isoleucine at codon 12 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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 29, 2024

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