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NM_001378452.1(ITPR1):c.5277G>A (p.Ser1759=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Aug 20, 2021)
Last evaluated:
Dec 15, 2020
Accession:
VCV000746448.4
Variation ID:
746448
Description:
single nucleotide variant
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NM_001378452.1(ITPR1):c.5277G>A (p.Ser1759=)

Allele ID
748314
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p26.1
Genomic location
3: 4733144 (GRCh38) GRCh38 UCSC
3: 4774828 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001168272.1:c.5232G>A NP_001161744.1:p.Ser1744= synonymous
NC_000003.11:g.4774828G>A
NC_000003.12:g.4733144G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:4733143:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00009
The Genome Aggregation Database (gnomAD), exomes 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00037
The Genome Aggregation Database (gnomAD) 0.00054
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
dbSNP: rs368425885
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 15, 2020 RCV000923060.3
Benign 1 criteria provided, single submitter Dec 30, 2019 RCV001288644.1
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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
795 888

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Apr 03, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001068518.1
Submitted: (Mar 14, 2019)
Evidence details
Benign
(Dec 30, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001475915.1
Submitted: (Dec 30, 2020)
Evidence details
Likely benign
(Dec 15, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001805366.1
Submitted: (Aug 20, 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 rs368425885...

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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 Oct 24, 2021