NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly) AND Spinocerebellar ataxia type 29

Germline classification:: Likely benign (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:: RCV000677365.4

Allele description [Variation Report for NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly)]

NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly)

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.3461A>G (p.Asp1154Gly)

HGVS:

NC_000003.12:g.4683761A>G
NG_016144.1:g.195414A>G
NM_001099952.4:c.3434A>G
NM_001168272.2:c.3416A>G
NM_001378452.1:c.3461A>GMANE SELECT
NM_002222.7:c.3389A>G
NP_001093422.2:p.Asp1145Gly
NP_001161744.1:p.Asp1139Gly
NP_001365381.1:p.Asp1154Gly
NP_002213.5:p.Asp1130Gly
NC_000003.11:g.4725445A>G
NM_001168272.1:c.3416A>G
NM_002222.5:c.3389A>G

Protein change:

D1130G

Links:

dbSNP: rs61751570

Molecular consequence:

NM_001099952.4:c.3434A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001168272.2:c.3416A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378452.1:c.3461A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002222.7:c.3389A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Spinocerebellar ataxia type 29 (SCA29)
Synonyms:: 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000700187	Schule lab, Hertie Institute for Clinical Brain Research	criteria provided, single submitter (Synofzik et al. (Eur J Hum Genet. 2018))	Likely benign (Feb 9, 2018)	inherited	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000700187

Schule lab, Hertie Institute for Clinical Brain Research

criteria provided, single submitter

(Synofzik et al. (Eur J Hum Genet. 2018))

Likely benign
(Feb 9, 2018)

inherited

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
European Caucasoid	inherited	yes	2	not provided	not provided	not provided	not provided	research

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, SCV000700187.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	European Caucasoid	2	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Jun 20, 2026

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