NM_002667.5(PLN):c.145_158del (p.Val49fs) AND Dilated cardiomyopathy 1P

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 19, 2022
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:: RCV002676004.3

Allele description [Variation Report for NM_002667.5(PLN):c.145_158del (p.Val49fs)]

NM_002667.5(PLN):c.145_158del (p.Val49fs)

Genes:

CEP85L:centrosomal protein 85 like [Gene - OMIM - HGNC]
PLN:phospholamban [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6q22.31

Genomic location:

Preferred name:

NM_002667.5(PLN):c.145_158del (p.Val49fs)

HGVS:

NC_000006.12:g.118559066_118559079del
NG_009082.1:g.15788_15801del
NG_021248.1:g.155997_156010del
NM_001042475.3:c.1020+6450_1020+6463delMANE SELECT
NM_001178035.2:c.1029+6450_1029+6463del
NM_002667.5:c.145_158delMANE SELECT
NM_206921.3:c.1020+6450_1020+6463del
NP_002658.1:p.Val49Lysfs
NP_002658.1:p.Val49fs
LRG_390t1:c.145_158del
LRG_390:g.15788_15801del
LRG_390p1:p.Val49Lysfs
NC_000006.11:g.118880229_118880242del
NM_002667.3:c.145_158delGTGATGCTTCTCTG

Protein change:

V49fs

Molecular consequence:

NM_002667.5:c.145_158del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001042475.3:c.1020+6450_1020+6463del - intron variant - [Sequence Ontology: SO:0001627]
NM_001178035.2:c.1029+6450_1029+6463del - intron variant - [Sequence Ontology: SO:0001627]
NM_206921.3:c.1020+6450_1020+6463del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Dilated cardiomyopathy 1P (CMD1P)
Identifiers:: MONDO: MONDO:0012362; MedGen: C1835928; Orphanet: 154; OMIM: 609909

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002981978	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 19, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002981978

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 19, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002981978.2

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with PLN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the PLN gene (p.Val49Lysfs*7). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 4 amino acid(s) of the PLN protein and extend the protein by 2 additional amino acid residues.

#	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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