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NM_001378452.1(ITPR1):c.6808+5G>T AND Gillespie syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 20, 2016
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:
RCV000225000.3

Allele description [Variation Report for NM_001378452.1(ITPR1):c.6808+5G>T]

NM_001378452.1(ITPR1):c.6808+5G>T

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.6808+5G>T
HGVS:
  • NC_000003.12:g.4788144G>T
  • NG_016144.1:g.299797G>T
  • NM_001099952.4:c.6664+5G>T
  • NM_001168272.2:c.6763+5G>T
  • NM_001378452.1:c.6808+5G>TMANE SELECT
  • NM_002222.7:c.6619+5G>T
  • NC_000003.11:g.4829828G>T
  • NM_001099952.2:c.6664+5G>T
Nucleotide change:
IVS52DS, G-T, +5
Links:
OMIM: 147265.0008; dbSNP: rs878853174
NCBI 1000 Genomes Browser:
rs878853174
Molecular consequence:
  • NM_001099952.4:c.6664+5G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001168272.2:c.6763+5G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378452.1:c.6808+5G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002222.7:c.6619+5G>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Gillespie syndrome (GLSP)
Synonyms:
Aniridia, cerebellar ataxia, and mental deficiency; Aniridia-cerebellar ataxia-intellectual disability syndrome
Identifiers:
MONDO: MONDO:0008795; MedGen: C0431401; Orphanet: 1065; OMIM: 206700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000281783OMIM
no assertion criteria provided
Pathogenic
(Jul 20, 2016) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

Gerber S, Alzayady KJ, Burglen L, Brémond-Gignac D, Marchesin V, Roche O, Rio M, Funalot B, Calmon R, Durr A, Gil-da-Silva-Lopes VL, Ribeiro Bittar MF, Orssaud C, Héron B, Ayoub E, Berquin P, Bahi-Buisson N, Bole C, Masson C, Munnich A, Simons M, Delous M, et al.

Am J Hum Genet. 2016 May 5;98(5):971-980. doi: 10.1016/j.ajhg.2016.03.004. Epub 2016 Apr 21.

PubMed [citation]
PMID:
27108797
PMCID:
PMC4863566

Details of each submission

From OMIM, SCV000281783.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the c.6664+5G-T transversion (c.6664+5G-T, NM_001099952.2) in the ITPR1 gene (isoform 1), predicted by mRNA analysis to result in premature termination (Ala2221Valfs23Ter), that was found in compound heterozygous state in a patient with Gillespie syndrome (GLSP; 206700) by Gerber et al. (2016), see 147265.0007.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023