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NM_001378452.1(ITPR1):c.7811T>C (p.Leu2604Pro) AND Gillespie syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 23, 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:
RCV003147772.1

Allele description [Variation Report for NM_001378452.1(ITPR1):c.7811T>C (p.Leu2604Pro)]

NM_001378452.1(ITPR1):c.7811T>C (p.Leu2604Pro)

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.7811T>C (p.Leu2604Pro)
HGVS:
  • NC_000003.12:g.4815162T>C
  • NG_016144.2:g.326816T>C
  • NG_082910.1:g.1188T>C
  • NM_001099952.3:c.7667T>C
  • NM_001099952.4:c.7667T>C
  • NM_001168272.2:c.7766T>C
  • NM_001378452.1:c.7811T>CMANE SELECT
  • NM_002222.7:c.7622T>C
  • NP_001093422.2:p.Leu2556Pro
  • NP_001161744.1:p.Leu2589Pro
  • NP_001365381.1:p.Leu2604Pro
  • NP_002213.5:p.Leu2541Pro
  • NC_000003.11:g.4856846T>C
  • NG_016144.1:g.326815T>C
  • NM_002222.5:c.7622T>C
Protein change:
L2541P
Molecular consequence:
  • NM_001099952.4:c.7667T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001168272.2:c.7766T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378452.1:c.7811T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002222.7:c.7622T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003835555Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Sep 23, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Baylor Genetics, SCV003835555.1

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

Last Updated: Dec 24, 2023