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NM_173500.4(TTBK2):c.3466C>T (p.Arg1156Ter) AND Spinocerebellar ataxia type 11

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 22, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001849234.2

Allele description [Variation Report for NM_173500.4(TTBK2):c.3466C>T (p.Arg1156Ter)]

NM_173500.4(TTBK2):c.3466C>T (p.Arg1156Ter)

Gene:
TTBK2:tau tubulin kinase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q15.2
Genomic location:
Preferred name:
NM_173500.4(TTBK2):c.3466C>T (p.Arg1156Ter)
HGVS:
  • NC_000015.10:g.42746064G>A
  • NG_012664.1:g.179746C>T
  • NM_173500.4:c.3466C>TMANE SELECT
  • NP_775771.3:p.Arg1156Ter
  • NC_000015.9:g.43038262G>A
  • NM_173500.3:c.3466C>T
Protein change:
R1156*
Links:
dbSNP: rs770444240
NCBI 1000 Genomes Browser:
rs770444240
Molecular consequence:
  • NM_173500.4:c.3466C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Spinocerebellar ataxia type 11 (SCA11)
Synonyms:
Spinocerebellar Ataxia Type11
Identifiers:
MONDO: MONDO:0011464; MedGen: C1858351; Orphanet: 98767; OMIM: 604432

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001960827O&I group, Department of Genetics, University Medical Center of Groningen
no assertion criteria provided
Likely pathogenic
(Jul 22, 2021) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From O&I group, Department of Genetics, University Medical Center of Groningen, SCV001960827.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025