U.S. flag

An official website of the United States government

NM_020451.3(SELENON):c.302-2_302-1del AND Eichsfeld type congenital muscular dystrophy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 29, 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:
RCV003613378.2

Allele description [Variation Report for NM_020451.3(SELENON):c.302-2_302-1del]

NM_020451.3(SELENON):c.302-2_302-1del

Gene:
SELENON:selenoprotein N [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.11
Genomic location:
Preferred name:
NM_020451.3(SELENON):c.302-2_302-1del
HGVS:
  • NC_000001.11:g.25802014_25802015del
  • NG_009930.1:g.6839_6840del
  • NM_020451.3:c.302-2_302-1delMANE SELECT
  • NM_206926.2:c.301+854_301+855del
  • LRG_857t1:c.302-2_302-1del
  • LRG_857:g.6839_6840del
  • NC_000001.10:g.26128505_26128506del
Molecular consequence:
  • NM_206926.2:c.301+854_301+855del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020451.3:c.302-2_302-1del - splice acceptor variant - [Sequence Ontology: SO:0001574]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004453689Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely pathogenic
(Jan 29, 2024) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Splicing in action: assessing disease causing sequence changes.

Baralle D, Baralle M.

J Med Genet. 2005 Oct;42(10):737-48. Review.

PubMed [citation]
PMID:
16199547
PMCID:
PMC1735933

Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.

Castets P, Bertrand AT, Beuvin M, Ferry A, Le Grand F, Castets M, Chazot G, Rederstorff M, Krol A, Lescure A, Romero NB, Guicheney P, Allamand V.

Hum Mol Genet. 2011 Feb 15;20(4):694-704. doi: 10.1093/hmg/ddq515. Epub 2010 Dec 2.

PubMed [citation]
PMID:
21131290
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004453689.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change affects a splice site in intron 2 of the SELENON gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SELENON are known to be pathogenic (PMID: 21131290, 21670436). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SELENON-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024