U.S. flag

An official website of the United States government

NM_001378452.1(ITPR1):c.1510A>G (p.Arg504Gly) AND Spinocerebellar ataxia type 29

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 26, 2022
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:
RCV003447578.1

Allele description [Variation Report for NM_001378452.1(ITPR1):c.1510A>G (p.Arg504Gly)]

NM_001378452.1(ITPR1):c.1510A>G (p.Arg504Gly)

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.1510A>G (p.Arg504Gly)
HGVS:
  • NC_000003.12:g.4663162A>G
  • NG_016144.1:g.174815A>G
  • NM_001099952.4:c.1510A>G
  • NM_001168272.2:c.1465A>G
  • NM_001378452.1:c.1510A>GMANE SELECT
  • NM_002222.7:c.1465A>G
  • NP_001093422.2:p.Arg504Gly
  • NP_001161744.1:p.Arg489Gly
  • NP_001161744.1:p.Arg489Gly
  • NP_001365381.1:p.Arg504Gly
  • NP_002213.5:p.Arg489Gly
  • NC_000003.11:g.4704846A>G
  • NM_001168272.1:c.1465A>G
Protein change:
R489G
Links:
dbSNP: rs2093873520
NCBI 1000 Genomes Browser:
rs2093873520
Molecular consequence:
  • NM_001099952.4:c.1510A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001168272.2:c.1465A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378452.1:c.1510A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002222.7:c.1465A>G - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004175516Genetics and Molecular Pathology, SA Pathology

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Sep 26, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genetics and Molecular Pathology, SA Pathology, SCV004175516.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 17, 2023