NM_020451.3(SELENON):c.1549_1551del (p.Glu517del) AND Eichsfeld type congenital muscular dystrophy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 21, 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:: RCV003611700.2

Allele description [Variation Report for NM_020451.3(SELENON):c.1549_1551del (p.Glu517del)]

NM_020451.3(SELENON):c.1549_1551del (p.Glu517del)

Gene:

SELENON:selenoprotein N [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p36.11

Genomic location:

Preferred name:

NM_020451.3(SELENON):c.1549_1551del (p.Glu517del)

HGVS:

NC_000001.11:g.25814125_25814127del
NG_009930.1:g.18950_18952del
NM_020451.3:c.1549_1551delMANE SELECT
NM_206926.2:c.1447_1449del
NP_065184.2:p.Glu517del
NP_996809.1:p.Glu483del
LRG_857t1:c.1549_1551del
LRG_857:g.18950_18952del
LRG_857p1:p.Glu517del
NC_000001.10:g.26140615_26140617del
NC_000001.10:g.26140616_26140618del

Protein change:

E483del

Molecular consequence:

NM_020451.3:c.1549_1551del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_206926.2:c.1447_1449del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Eichsfeld type congenital muscular dystrophy (CMYO3)
Synonyms:: MYOPATHY, SEPN1-RELATED; Rigid spine muscular dystrophy 1; CONGENITAL MYOPATHY 3 WITH RIGID SPINE
Identifiers:: MONDO: MONDO:0011271; MedGen: C0410180; OMIM: 602771

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004374076	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 21, 2023)	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

SCV004374076

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 21, 2023)

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, SCV004374076.1

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

Description

This variant, c.1549_1551del, results in the deletion of 1 amino acid(s) of the SELENON protein (p.Glu517del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of SELENON-related conditions (Invitae). It has also been observed to segregate with disease in related individuals. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

#	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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