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NM_006516.4(SLC2A1):c.635del (p.Arg212fs) AND Dystonia 9

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 4, 2022
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:
RCV002246714.1

Allele description [Variation Report for NM_006516.4(SLC2A1):c.635del (p.Arg212fs)]

NM_006516.4(SLC2A1):c.635del (p.Arg212fs)

Gene:
SLC2A1:solute carrier family 2 member 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p34.2
Genomic location:
Preferred name:
NM_006516.4(SLC2A1):c.635del (p.Arg212fs)
HGVS:
  • NC_000001.11:g.42929917del
  • NG_008232.1:g.34260del
  • NM_006516.4:c.635delMANE SELECT
  • NP_006507.2:p.Arg212fs
  • LRG_1132:g.34260del
  • NC_000001.10:g.43395588del
  • NC_000001.11:g.42929917_42929917delC
Protein change:
R212fs
Links:
dbSNP: rs2124449287
NCBI 1000 Genomes Browser:
rs2124449287
Molecular consequence:
  • NM_006516.4:c.635del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Dystonia 9 (DYT9)
Synonyms:
CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY
Identifiers:
MONDO: MONDO:0010983; MedGen: C1832855; OMIM: 601042

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002519763Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Pathogenic
(May 4, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV002519763.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023