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NM_007327.4(GRIN1):c.2235C>T (p.Asp745=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000539846.3
Variation ID:
539846
Description:
single nucleotide variant
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NM_007327.4(GRIN1):c.2235C>T (p.Asp745=)

Allele ID
525026
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.3
Genomic location
9: 137163232 (GRCh38) GRCh38 UCSC
9: 140057684 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.140057684C>T
NC_000009.12:g.137163232C>T
NM_007327.4:c.2235C>T MANE Select NP_015566.1:p.Asp745= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:137163231:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00010
Trans-Omics for Precision Medicine (TOPMed) 0.00009
Exome Aggregation Consortium (ExAC) 0.00006
Links
ClinGen: CA5361086
dbSNP: rs200518957
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Dec 31, 2019 RCV000649670.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GRIN1 - - GRCh38
GRCh37
447 512

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
Allele origin: germline
Invitae
Accession: SCV000771499.3
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 rs200518957...

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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 May 04, 2020