U.S. flag

An official website of the United States government

NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer) AND Congenital myopathy 4A, autosomal dominant

Germline classification:
Likely pathogenic (1 submission)
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:
RCV003338457.2

Allele description [Variation Report for NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer)]

NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer)

Gene:
SELENON:selenoprotein N [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1p36.11
Genomic location:
Preferred name:
NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer)
Other names:
NM_020451.3(SELENON):c.827_829dup; p.Cys277_Leu278insSer
HGVS:
  • NC_000001.11:g.25809105_25809107dup
  • NG_009930.1:g.13930_13932dup
  • NM_020451.3:c.827_829dupMANE SELECT
  • NM_206926.2:c.725_727dup
  • NP_065184.2:p.Ala276_Cys277insSer
  • NP_996809.1:p.Ala242_Cys243insSer
  • LRG_857t1:c.827_829dup
  • LRG_857:g.13930_13932dup
  • LRG_857p1:p.Ala276_Cys277insSer
  • NC_000001.10:g.26135596_26135598dup
  • NM_020451.2:c.827_829dupCCT
Links:
dbSNP: rs797045950
NCBI 1000 Genomes Browser:
rs797045950
Molecular consequence:
  • NM_020451.3:c.827_829dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_206926.2:c.725_727dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
Congenital myopathy 4A, autosomal dominant
Synonyms:
Cap myopathy 1
Identifiers:
MONDO: MONDO:0800341; MedGen: CN178536; OMIM: 255310

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
SCV004047880Neuberg Centre For Genomic Medicine, NCGM
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicgermlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Neuberg Centre For Genomic Medicine, NCGM, SCV004047880.1

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

Description

The inframe insertion variant c.827_829dup (p.Ala276_Cys277insSer) has been submitted to ClinVar as Likely Pathogenic. It has been reported previously using alternate nomenclature (c.829_829insTCC) in the homozygous state in an individual with significant neck extensor and flexor weakness, mild axial and limb girdle weakness, and developmental delay (Ardissone et al., 2016). This p.Ala276_Cys277insSer variant has allele frequency of 0.0008% in the gnomAD and novel (not in any individuals) in 1000 genome database . The insertion of amino acid Ser between amino acids Ala at position 276 and Cys at position 277 changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Likely Pathogenic. In the absence of another reportable variant , the molecular diagnosis is not confirmed.

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

Last Updated: May 16, 2025