NM_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val) AND multiple conditions

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 23, 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:: RCV002488752.1

Allele description [Variation Report for NM_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val)]

NM_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val)

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.4288A>G (p.Ile1430Val)

HGVS:

NC_000003.12:g.4697153A>G
NG_016144.1:g.208806A>G
NM_001099952.4:c.4261A>G
NM_001168272.2:c.4243A>G
NM_001378452.1:c.4288A>GMANE SELECT
NM_002222.7:c.4216A>G
NP_001093422.2:p.Ile1421Val
NP_001161744.1:p.Ile1415Val
NP_001161744.1:p.Ile1415Val
NP_001365381.1:p.Ile1430Val
NP_002213.5:p.Ile1406Val
NC_000003.11:g.4738837A>G
NM_001168272.1:c.4243A>G
NM_002222.5:c.4216A>G
NM_002222.6:c.4216A>G

Protein change:

I1406V

Links:

dbSNP: rs3749383

NCBI 1000 Genomes Browser:

rs3749383

Molecular consequence:

NM_001099952.4:c.4261A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001168272.2:c.4243A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378452.1:c.4288A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002222.7:c.4216A>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

Name:: Spinocerebellar ataxia type 15/16 (SCA15)
Synonyms:: SCA16 (formerly); Spinocerebellar ataxia 16 (formerly); Spinocerebellar Ataxia Type 15; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011694; MedGen: C1847725; OMIM: 606658

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002794936	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Aug 23, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002794936

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Aug 23, 2021)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Fulgent Genetics, Fulgent Genetics, SCV002794936.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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