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NM_173500.4(TTBK2):c.1100A>T (p.Lys367Ile) AND Spinocerebellar ataxia type 11

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 28, 2017
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:
RCV001118473.4

Allele description [Variation Report for NM_173500.4(TTBK2):c.1100A>T (p.Lys367Ile)]

NM_173500.4(TTBK2):c.1100A>T (p.Lys367Ile)

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.1100A>T (p.Lys367Ile)
HGVS:
  • NC_000015.10:g.42783516T>A
  • NG_012664.1:g.142294A>T
  • NM_173500.4:c.1100A>TMANE SELECT
  • NP_775771.3:p.Lys367Ile
  • NC_000015.9:g.43075714T>A
  • NC_000015.9:g.43075714T>A
  • NM_173500.3:c.1100A>T
Protein change:
K367I
Links:
dbSNP: rs764753481
NCBI 1000 Genomes Browser:
rs764753481
Molecular consequence:
  • NM_173500.4:c.1100A>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001276753Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Benign
(Apr 28, 2017) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.

Verdura E, Hervé D, Scharrer E, Amador Mdel M, Guyant-Maréchal L, Philippi A, Corlobé A, Bergametti F, Gazal S, Prieto-Morin C, Beaufort N, Le Bail B, Viakhireva I, Dichgans M, Chabriat H, Haffner C, Tournier-Lasserve E.

Brain. 2015 Aug;138(Pt 8):2347-58. doi: 10.1093/brain/awv155. Epub 2015 Jun 10.

PubMed [citation]
PMID:
26063658

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001276753.1

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

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

Last Updated: Sep 29, 2024