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NM_003919.3(SGCE):c.810G>A (p.Trp270Ter) AND Myoclonic dystonia 11

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 14, 2018
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:
RCV000799864.2

Allele description [Variation Report for NM_003919.3(SGCE):c.810G>A (p.Trp270Ter)]

NM_003919.3(SGCE):c.810G>A (p.Trp270Ter)

Genes:
CASD1:CAS1 domain containing 1 [Gene - OMIM - HGNC]
SGCE:sarcoglycan epsilon [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.3
Genomic location:
Preferred name:
NM_003919.3(SGCE):c.810G>A (p.Trp270Ter)
HGVS:
  • NC_000007.14:g.94603305C>T
  • NG_008893.2:g.57905G>A
  • NM_001099400.2:c.810G>A
  • NM_001099401.2:c.810G>A
  • NM_001301139.2:c.687G>A
  • NM_001346713.2:c.918G>A
  • NM_001346715.2:c.918G>A
  • NM_001346717.2:c.810G>A
  • NM_001346719.2:c.723G>A
  • NM_001346720.2:c.537G>A
  • NM_001362807.2:c.723G>A
  • NM_001362808.2:c.537G>A
  • NM_001362809.2:c.687G>A
  • NM_003919.3:c.810G>AMANE SELECT
  • NP_001092870.1:p.Trp270Ter
  • NP_001092871.1:p.Trp270Ter
  • NP_001288068.1:p.Trp229Ter
  • NP_001333642.1:p.Trp306Ter
  • NP_001333644.1:p.Trp306Ter
  • NP_001333646.1:p.Trp270Ter
  • NP_001333648.1:p.Trp241Ter
  • NP_001333649.1:p.Trp179Ter
  • NP_001349736.1:p.Trp241Ter
  • NP_001349737.1:p.Trp179Ter
  • NP_001349738.1:p.Trp229Ter
  • NP_003910.1:p.Trp270Ter
  • LRG_206t1:c.810G>A
  • LRG_206p1:p.Trp270Ter
  • NC_000007.13:g.94232617C>T
  • NM_003919.2:c.810G>A
Protein change:
W179*
Links:
dbSNP: rs1562811414
NCBI 1000 Genomes Browser:
rs1562811414
Molecular consequence:
  • NM_001099400.2:c.810G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001099401.2:c.810G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001301139.2:c.687G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001346713.2:c.918G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001346715.2:c.918G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001346717.2:c.810G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001346719.2:c.723G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001346720.2:c.537G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001362807.2:c.723G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001362808.2:c.537G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001362809.2:c.687G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003919.3:c.810G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Myoclonic dystonia 11 (DYT11)
Synonyms:
Myoclonic dystonia; Dystonia 11; Dystonia, alcohol responsive; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008044; MedGen: C1834570; Orphanet: 36899; OMIM: 159900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000939546Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 14, 2018) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000939546.1

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

Description

This sequence change creates a premature translational stop signal (p.Trp270*) in the SGCE gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with myoclonus dystonia (PMID: 17853490). Loss-of-function variants in SGCE are known to be pathogenic (PMID: 12821748, 15389977, 17853490, 24297365). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Apr 15, 2024