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NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg) AND Spinocerebellar ataxia type 29

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001542743.2

Allele description [Variation Report for NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)]

NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)

Genes:
LOC126806590:MED14-independent group 3 enhancer GRCh37_chr3:4855759-4856958 [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.7648G>A (p.Gly2550Arg)
HGVS:
  • NC_000003.12:g.4814509G>A
  • NG_016144.1:g.326162G>A
  • NM_001099952.4:c.7504G>A
  • NM_001168272.2:c.7603G>A
  • NM_001378452.1:c.7648G>AMANE SELECT
  • NM_002222.7:c.7459G>A
  • NP_001093422.2:p.Gly2502Arg
  • NP_001161744.1:p.Gly2535Arg
  • NP_001161744.1:p.Gly2535Arg
  • NP_001365381.1:p.Gly2550Arg
  • NP_002213.5:p.Gly2487Arg
  • NC_000003.11:g.4856193G>A
  • NM_001168272.1:c.7603G>A
  • NM_002222.5:c.7459G>A
Protein change:
G2487R
Links:
dbSNP: rs1553757628
NCBI 1000 Genomes Browser:
rs1553757628
Molecular consequence:
  • NM_001099952.4:c.7504G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001168272.2:c.7603G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378452.1:c.7648G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002222.7:c.7459G>A - 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
SCV001760124Genomics England Pilot Project, Genomics England
no assertion criteria provided

(ACGS Guidelines, 2016)		Likely pathogenicgermlineclinical testing

Citation Link

Help

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, SCV001760124.1

#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 8, 2024