NM_001378452.1(ITPR1):c.2007-3T>C AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Jan 11, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000175427.8

Allele description [Variation Report for NM_001378452.1(ITPR1):c.2007-3T>C]

NM_001378452.1(ITPR1):c.2007-3T>C

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.2007-3T>C

HGVS:

NC_000003.12:g.4670726T>C
NG_016144.1:g.182379T>C
NM_001099952.4:c.2007-3T>C
NM_001168272.2:c.1962-3T>C
NM_001378452.1:c.2007-3T>CMANE SELECT
NM_002222.7:c.1962-3T>C
NC_000003.11:g.4712410T>C
NM_001168272.1:c.1962-3T>C
NM_002222.5:c.1962-3T>C

Links:

dbSNP: rs200335594

NCBI 1000 Genomes Browser:

rs200335594

Molecular consequence:

NM_001099952.4:c.2007-3T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001168272.2:c.1962-3T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001378452.1:c.2007-3T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_002222.7:c.1962-3T>C - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000226904	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Feb 26, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV001880158	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics criteria)	Benign (Jan 11, 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

SCV000226904

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Feb 26, 2015)

germline

clinical testing

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

Citation Link,

SCV001880158

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics criteria)

Benign
(Jan 11, 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	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features.

Synofzik M, Beetz C, Bauer C, Bonin M, Sanchez-Ferrero E, Schmitz-Hübsch T, Wüllner U, Nägele T, Riess O, Schöls L, Bauer P.

J Med Genet. 2011 Jun;48(6):407-12. doi: 10.1136/jmg.2010.087023. Epub 2011 Mar 1.

PubMed [citation]

PMID:: 21367767

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Eurofins Ntd Llc (ga), SCV000226904.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

From Athena Diagnostics, SCV001880158.1

#	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: May 19, 2024

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