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NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) AND multiple conditions

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Oct 29, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000681664.16

Allele description [Variation Report for NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)]

NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)

Gene:
SELENON:selenoprotein N [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.11
Genomic location:
Preferred name:
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
Other names:
NM_020451.3(SELENON):c.943G>A
HGVS:
  • NC_000001.11:g.25809753G>A
  • NG_009930.1:g.14578G>A
  • NM_020451.3:c.943G>AMANE SELECT
  • NM_206926.2:c.841G>A
  • NP_065184.2:p.Gly315Ser
  • NP_065184.2:p.Gly315Ser
  • NP_996809.1:p.Gly281Ser
  • LRG_857t1:c.943G>A
  • LRG_857:g.14578G>A
  • LRG_857p1:p.Gly315Ser
  • NC_000001.10:g.26136244G>A
  • NM_020451.2:c.943G>A
  • Q9NZV5:p.Gly315Ser
Protein change:
G281S; GLY315SER
Links:
UniProtKB: Q9NZV5#VAR_019637; OMIM: 606210.0008; dbSNP: rs121908188
NCBI 1000 Genomes Browser:
rs121908188
Molecular consequence:
  • NM_020451.3:c.943G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206926.2:c.841G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Eichsfeld type congenital muscular dystrophy (CMYP3)
Synonyms:
MYOPATHY, SEPN1-RELATED; Rigid spine muscular dystrophy 1; CONGENITAL MYOPATHY 3 WITH RIGID SPINE
Identifiers:
MONDO: MONDO:0011271; MedGen: C0410180; OMIM: 602771
Name:
Congenital myopathy with fiber type disproportion
Synonyms:
Congenital fiber-type disproportion myopathy; Congenital Fiber-Type Disproportion
Identifiers:
MONDO: MONDO:0009711; MedGen: C0546264; Orphanet: 2020

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000930584Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(May 6, 2019) 		maternalclinical testing

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

SCV002807135Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 29, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
Whitematernalyes11not 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 Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV000930584.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1White1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided1not provided1not provided

From Fulgent Genetics, Fulgent Genetics, SCV002807135.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 26, 2024