NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr) AND ITPR1-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 8, 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:: RCV003411935.4

Allele description [Variation Report for NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr)]

NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr)

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.2111G>C (p.Ser704Thr)

HGVS:

NC_000003.12:g.4670833G>C
NG_016144.1:g.182486G>C
NM_001099952.4:c.2111G>C
NM_001168272.2:c.2066G>C
NM_001378452.1:c.2111G>CMANE SELECT
NM_002222.7:c.2066G>C
NP_001093422.2:p.Ser704Thr
NP_001161744.1:p.Ser689Thr
NP_001161744.1:p.Ser689Thr
NP_001365381.1:p.Ser704Thr
NP_002213.5:p.Ser689Thr
NC_000003.11:g.4712517G>C
NC_000003.11:g.4712517G>C
NM_001168272.1:c.2066G>C
NM_002222.5:c.2066G>C

Protein change:

S689T

Links:

dbSNP: rs373694009

NCBI 1000 Genomes Browser:

rs373694009

Molecular consequence:

NM_001099952.4:c.2111G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001168272.2:c.2066G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378452.1:c.2111G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002222.7:c.2066G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: ITPR1-related disorder
Synonyms:: ITPR1-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004116021	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 8, 2022)	germline	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

SCV004116021

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 8, 2022)

germline

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Nothing to display

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004116021.1

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

Description

The ITPR1 c.2066G>C variant is predicted to result in the amino acid substitution p.Ser689Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.041% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-4712517-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#	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		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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