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NM_003919.3(SGCE):c.436T>A (p.Leu146Met) AND Myoclonic dystonia 11

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Dec 2, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV001083911.11

Allele description

NM_003919.3(SGCE):c.436T>A (p.Leu146Met)

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.436T>A (p.Leu146Met)
HGVS:
  • NC_000007.14:g.94623352A>T
  • NG_008893.2:g.37858T>A
  • NM_001099400.2:c.436T>A
  • NM_001099401.2:c.436T>A
  • NM_001301139.2:c.313T>A
  • NM_001346713.2:c.544T>A
  • NM_001346715.2:c.544T>A
  • NM_001346717.2:c.436T>A
  • NM_001346719.2:c.349T>A
  • NM_001346720.2:c.163T>A
  • NM_001362807.2:c.349T>A
  • NM_001362808.2:c.163T>A
  • NM_001362809.2:c.313T>A
  • NM_003919.3:c.436T>AMANE SELECT
  • NP_001092870.1:p.Leu146Met
  • NP_001092871.1:p.Leu146Met
  • NP_001288068.1:p.Leu105Met
  • NP_001333642.1:p.Leu182Met
  • NP_001333644.1:p.Leu182Met
  • NP_001333646.1:p.Leu146Met
  • NP_001333648.1:p.Leu117Met
  • NP_001333649.1:p.Leu55Met
  • NP_001349736.1:p.Leu117Met
  • NP_001349737.1:p.Leu55Met
  • NP_001349738.1:p.Leu105Met
  • NP_003910.1:p.Leu146Met
  • LRG_206t1:c.436T>A
  • LRG_206p1:p.Leu146Met
  • NC_000007.13:g.94252664A>T
  • NM_003919.2:c.436T>A
Protein change:
L105M
Links:
dbSNP: rs752074255
NCBI 1000 Genomes Browser:
rs752074255
Molecular consequence:
  • NM_001099400.2:c.436T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099401.2:c.436T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301139.2:c.313T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346713.2:c.544T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346715.2:c.544T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346717.2:c.436T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346719.2:c.349T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346720.2:c.163T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362807.2:c.349T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362808.2:c.163T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362809.2:c.313T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003919.3:c.436T>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000638417Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely benign
(Dec 2, 2023) 		germlineclinical testing

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

SCV003819904Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 23, 2020) 		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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

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 Invitae, SCV000638417.8

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

From Revvity Omics, Revvity, SCV003819904.2

#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: May 19, 2024