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NM_003919.3(SGCE):c.391-3T>C AND Myoclonic dystonia 11

Germline classification:
Benign (2 submissions)
Last evaluated:
Feb 1, 2024
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:
RCV000394405.14

Allele description [Variation Report for NM_003919.3(SGCE):c.391-3T>C]

NM_003919.3(SGCE):c.391-3T>C

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.391-3T>C
HGVS:
  • NC_000007.14:g.94623400A>G
  • NG_008893.2:g.37810T>C
  • NM_001099400.2:c.391-3T>C
  • NM_001099401.2:c.391-3T>C
  • NM_001301139.2:c.268-3T>C
  • NM_001346713.2:c.499-3T>C
  • NM_001346715.2:c.499-3T>C
  • NM_001346717.2:c.391-3T>C
  • NM_001346719.2:c.304-3T>C
  • NM_001346720.2:c.118-3T>C
  • NM_001362807.2:c.304-3T>C
  • NM_001362808.2:c.118-3T>C
  • NM_001362809.2:c.268-3T>C
  • NM_003919.3:c.391-3T>CMANE SELECT
  • LRG_206t1:c.391-3T>C
  • NC_000007.13:g.94252712A>G
  • NM_001099401.1:c.391-3T>C
  • NM_003919.2:c.391-3T>C
Links:
dbSNP: rs17166384
NCBI 1000 Genomes Browser:
rs17166384
Molecular consequence:
  • NM_001099400.2:c.391-3T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001099401.2:c.391-3T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001301139.2:c.268-3T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001346713.2:c.499-3T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001346715.2:c.499-3T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001346717.2:c.391-3T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001346719.2:c.304-3T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001346720.2:c.118-3T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001362807.2:c.304-3T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001362808.2:c.118-3T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001362809.2:c.268-3T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003919.3:c.391-3T>C - intron variant - [Sequence Ontology: SO:0001627]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000470671Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)
Benign
(Apr 27, 2017)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000638415Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Benign
(Feb 1, 2024)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

The epsilon-sarcoglycan gene in myoclonic syndromes.

Valente EM, Edwards MJ, Mir P, DiGiorgio A, Salvi S, Davis M, Russo N, Bozi M, Kim HT, Pennisi G, Quinn N, Dallapiccola B, Bhatia KP.

Neurology. 2005 Feb 22;64(4):737-9.

PubMed [citation]
PMID:
15728306

Driving cancer dose-response modeling with data, not assumptions.

Sielken RL Jr.

Risk Anal. 1990 Jun;10(2):207-8. No abstract available.

PubMed [citation]
PMID:
2367709
See all PubMed Citations (3)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000470671.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000638415.6

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

Last Updated: Sep 29, 2024