NM_001378452.1(ITPR1):c.2305A>G (p.Met769Val) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Dec 20, 2019
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:: RCV001288216.4

Allele description [Variation Report for NM_001378452.1(ITPR1):c.2305A>G (p.Met769Val)]

NM_001378452.1(ITPR1):c.2305A>G (p.Met769Val)

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.2305A>G (p.Met769Val)

HGVS:

NC_000003.12:g.4673236A>G
NG_016144.1:g.184889A>G
NM_001099952.4:c.2305A>G
NM_001168272.2:c.2260A>G
NM_001378452.1:c.2305A>GMANE SELECT
NM_002222.7:c.2260A>G
NP_001093422.2:p.Met769Val
NP_001161744.1:p.Met754Val
NP_001161744.1:p.Met754Val
NP_001365381.1:p.Met769Val
NP_002213.5:p.Met754Val
NC_000003.11:g.4714920A>G
NM_001168272.1:c.2260A>G
NM_002222.5:c.2260A>G

Protein change:

M754V

Links:

dbSNP: rs35789999

NCBI 1000 Genomes Browser:

rs35789999

Molecular consequence:

NM_001099952.4:c.2305A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001168272.2:c.2260A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378452.1:c.2305A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002222.7:c.2260A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001475175	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Dec 20, 2019)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001966677	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001475175

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Dec 20, 2019)

unknown

clinical testing

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

SCV001966677

Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Benign

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	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

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 Athena Diagnostics, SCV001475175.1

#	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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001966677.1

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

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

Last Updated: May 12, 2024

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