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NM_001378452.1(ITPR1):c.7352T>C (p.Leu2451Pro) AND Spinocerebellar ataxia type 29

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 9, 2018
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:
RCV000677360.2

Allele description [Variation Report for NM_001378452.1(ITPR1):c.7352T>C (p.Leu2451Pro)]

NM_001378452.1(ITPR1):c.7352T>C (p.Leu2451Pro)

Gene:
ITPR1:inositol 1,4,5-trisphosphate receptor type 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p26.1
Genomic location:
Preferred name:
NM_001378452.1(ITPR1):c.7352T>C (p.Leu2451Pro)
HGVS:
  • NC_000003.12:g.4811344T>C
  • NG_016144.1:g.322997T>C
  • NM_001099952.4:c.7208T>C
  • NM_001168272.2:c.7307T>C
  • NM_001378452.1:c.7352T>CMANE SELECT
  • NM_002222.7:c.7163T>C
  • NP_001093422.2:p.Leu2403Pro
  • NP_001161744.1:p.Leu2436Pro
  • NP_001365381.1:p.Leu2451Pro
  • NP_002213.5:p.Leu2388Pro
  • NC_000003.11:g.4853028T>C
Protein change:
L2388P
Links:
dbSNP: rs1553756062
NCBI 1000 Genomes Browser:
rs1553756062
Molecular consequence:
  • NM_001099952.4:c.7208T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001168272.2:c.7307T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378452.1:c.7352T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002222.7:c.7163T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Spinocerebellar ataxia type 29 (SCA29)
Synonyms:
Cerebellar ataxia early-onset nonprogressive; CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT; Spinocerebellar ataxia 29, congenital nonprogressive
Identifiers:
MONDO: MONDO:0007298; MedGen: C1861732; Orphanet: 208513; OMIM: 117360

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000700182Schule lab, Hertie Institute for Clinical Brain Research
criteria provided, single submitter

(Synofzik et al. (Eur J Hum Genet. 2018))		Pathogenic
(Feb 9, 2018) 		de novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
European Caucasoidde novoyes1not providednot providednot providednot providedresearch

Citations

PubMed

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.

Synofzik M, Helbig KL, Harmuth F, Deconinck T, Tanpaiboon P, Sun B, Guo W, Wang R, Palmaer E, Tang S, Schaefer GB, Gburek-Augustat J, Züchner S, Krägeloh-Mann I, Baets J, de Jonghe P, Bauer P, Chen SRW, Schöls L, Schüle R.

Eur J Hum Genet. 2018 Nov;26(11):1623-1634. doi: 10.1038/s41431-018-0206-3. Epub 2018 Jun 20.

PubMed [citation]
PMID:
29925855
PMCID:
PMC6189112

Details of each submission

From Schule lab, Hertie Institute for Clinical Brain Research, SCV000700182.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European Caucasoid1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 24, 2022