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NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln) AND Infantile onset spinocerebellar ataxia

Germline classification:
Pathogenic (1 submission)
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:
RCV001542762.3

Allele description [Variation Report for NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln)]

NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln)

Gene:
TWNK:twinkle mtDNA helicase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q24.31
Genomic location:
Preferred name:
NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln)
HGVS:
  • NC_000010.11:g.100989211G>A
  • NG_011646.1:g.3305C>T
  • NG_012624.1:g.6676G>A
  • NM_001163812.2:c.1001G>A
  • NM_001163813.2:c.-119-433G>A
  • NM_001163814.2:c.-119-433G>A
  • NM_001368275.1:c.-57-495G>A
  • NM_021830.5:c.1001G>AMANE SELECT
  • NP_001157284.1:p.Arg334Gln
  • NP_068602.2:p.Arg334Gln
  • NC_000010.10:g.102748968G>A
  • NM_021830.4:c.1001G>A
  • NR_160738.1:n.1669G>A
  • NR_160740.1:n.1669G>A
  • NR_160741.1:n.1669G>A
  • NR_160742.1:n.1669G>A
  • Q96RR1:p.Arg334Gln
Protein change:
R334Q; ARG334GLN
Links:
UniProtKB: Q96RR1#VAR_023651; OMIM: 606075.0008; dbSNP: rs28937887
NCBI 1000 Genomes Browser:
rs28937887
Molecular consequence:
  • NM_001163813.2:c.-119-433G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001163814.2:c.-119-433G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368275.1:c.-57-495G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001163812.2:c.1001G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021830.5:c.1001G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_160738.1:n.1669G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160740.1:n.1669G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160741.1:n.1669G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160742.1:n.1669G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Infantile onset spinocerebellar ataxia (MTDPS7)
Synonyms:
Ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis; Spinocerebellar ataxia 8 (formerly); SCA8 (formerly); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010060; MedGen: C1849096; Orphanet: 1186; OMIM: 271245

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001760246Genomics England Pilot Project, Genomics England
criteria provided, single submitter

(ACGS Guidelines, 2016)		Pathogenicgermlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Genomics England Pilot Project, Genomics England, SCV001760246.1

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

Last Updated: Oct 20, 2024