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NM_002222.6(ITPR1):c.1404C>T (p.Phe468=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 2, 2021)
Last evaluated:
Feb 27, 2019
Accession:
VCV000719633.3
Variation ID:
719633
Description:
single nucleotide variant
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NM_002222.6(ITPR1):c.1404C>T (p.Phe468=)

Allele ID
720470
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p26.1
Genomic location
3: 4663101 (GRCh38) GRCh38 UCSC
3: 4704785 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.4704785C>T
NC_000003.12:g.4663101C>T
NG_016144.1:g.174754C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:4663100:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00020
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00041
1000 Genomes Project 0.00060
The Genome Aggregation Database (gnomAD) 0.00061
The Genome Aggregation Database (gnomAD), exomes 0.00016
Trans-Omics for Precision Medicine (TOPMed) 0.00085
Links
dbSNP: rs192247062
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 Feb 27, 2019 RCV000892816.3
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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
621 714

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Aug 08, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001036718.1
Submitted: (Mar 14, 2019)
Evidence details
Benign
(Feb 27, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001144255.1
Submitted: (Sep 25, 2019)
Evidence details
Likely benign
(Nov 30, 2020)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001825612.1
Submitted: (Sep 02, 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 rs192247062...

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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 Sep 07, 2021