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NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=) AND Spinocerebellar ataxia type 29

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 19, 2021
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:
RCV001730536.3

Allele description [Variation Report for NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=)]

NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=)

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.7635T>C (p.Thr2545=)
HGVS:
  • NC_000003.12:g.4814496T>C
  • NG_016144.1:g.326149T>C
  • NM_001099952.4:c.7491T>C
  • NM_001168272.2:c.7590T>C
  • NM_001378452.1:c.7635T>CMANE SELECT
  • NM_002222.7:c.7446T>C
  • NP_001093422.2:p.Thr2497=
  • NP_001161744.1:p.Thr2530=
  • NP_001161744.1:p.Thr2530=
  • NP_001365381.1:p.Thr2545=
  • NP_002213.5:p.Thr2482=
  • NP_002213.5:p.Thr2482=
  • NC_000003.11:g.4856180T>C
  • NM_001168272.1:c.7590T>C
  • NM_002222.5:c.7446T>C
  • NM_002222.6:c.7446T>C
  • NM_002222.6:c.7446T>C
Links:
dbSNP: rs711631
NCBI 1000 Genomes Browser:
rs711631
Molecular consequence:
  • NM_001099952.4:c.7491T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001168272.2:c.7590T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001378452.1:c.7635T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002222.7:c.7446T>C - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV001980810Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Aug 19, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV001980810.1

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

Last Updated: Sep 29, 2024