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NM_001378452.1(ITPR1):c.4263C>G (p.His1421Gln)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 9, 2021)
Last evaluated:
Jul 20, 2020
Accession:
VCV000345736.7
Variation ID:
345736
Description:
single nucleotide variant
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NM_001378452.1(ITPR1):c.4263C>G (p.His1421Gln)

Allele ID
291690
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p26.1
Genomic location
3: 4693723 (GRCh38) GRCh38 UCSC
3: 4735407 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001168272.1:c.4218C>G NP_001161744.1:p.His1406Gln missense
NC_000003.11:g.4735407C>G
NC_000003.12:g.4693723C>G
... more HGVS
Protein change
H1406Q, H1397Q, H1412Q, H1421Q
Other names
-
Canonical SPDI
NC_000003.12:4693722:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00619 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00547
The Genome Aggregation Database (gnomAD) 0.00436
1000 Genomes Project 0.00619
Trans-Omics for Precision Medicine (TOPMed) 0.00523
Links
ClinGen: CA2231924
dbSNP: rs61757110
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Jul 20, 2020 RCV000419779.5
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000351628.2
Benign 1 criteria provided, single submitter Dec 10, 2019 RCV001288227.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ITPR1 - - GRCh38
GRCh37
796 893

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely Benign
(Dec 28, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000511116.1
Submitted: (Feb 17, 2017)
Evidence details
Comment:
Converted during submission to Likely benign.
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001024257.2
Submitted: (Jan 29, 2020)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Spinocerebellar Ataxia, Dominant
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000444962.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Dec 10, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001475188.1
Submitted: (Dec 30, 2020)
Evidence details
Benign
(Jul 20, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001845650.1
Submitted: (Sep 09, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs61757110...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021