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NM_007327.4(GRIN1):c.66C>T (p.Cys22=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 25, 2021)
Last evaluated:
Nov 14, 2019
Accession:
VCV000388209.3
Variation ID:
388209
Description:
single nucleotide variant
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NM_007327.4(GRIN1):c.66C>T (p.Cys22=)

Allele ID
372829
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.3
Genomic location
9: 137139552 (GRCh38) GRCh38 UCSC
9: 140034004 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.140034004C>T
NC_000009.12:g.137139552C>T
NG_011507.1:g.5396C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:137139551:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00007
The Genome Aggregation Database (gnomAD) 0.00010
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA5360577
dbSNP: rs148688400
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 Nov 14, 2019 RCV001484581.1
Likely benign 1 criteria provided, single submitter Jun 25, 2019 RCV001704460.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Jun 25, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000530460.4
Submitted: (Sep 25, 2021)
Evidence details
Likely benign
(Nov 14, 2019)
criteria provided, single submitter
Method: clinical testing
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
Allele origin: germline
Invitae
Accession: SCV001689000.1
Submitted: (Jan 07, 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 rs148688400...

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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 26, 2021