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NM_001378452.1(ITPR1):c.6447C>T (p.Asn2149=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 29, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000447596.3
Variation ID:
447596
Description:
single nucleotide variant
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NM_001378452.1(ITPR1):c.6447C>T (p.Asn2149=)

Allele ID
440814
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p26.1
Genomic location
3: 4782678 (GRCh38) GRCh38 UCSC
3: 4824362 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001168272.1:c.6402C>T NP_001161744.1:p.Asn2134= synonymous
NC_000003.11:g.4824362C>T
NC_000003.12:g.4782678C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:4782677:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00009
Trans-Omics for Precision Medicine (TOPMed) 0.00037
Trans-Omics for Precision Medicine (TOPMed) 0.00038
Exome Aggregation Consortium (ExAC) 0.00008
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00034
The Genome Aggregation Database (gnomAD) 0.00041
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00048
Links
ClinGen: CA2232598
dbSNP: rs202123078
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Feb 16, 2017 RCV000516611.1
Likely benign 1 criteria provided, single submitter Dec 31, 2019 RCV000919815.2
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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
Benign
(Feb 16, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000613802.1
Submitted: (Aug 17, 2017)
Evidence details
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001065169.2
Submitted: (Jan 29, 2020)
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 rs202123078...

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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