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NM_007327.4(GRIN1):c.403C>T (p.Leu135=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Aug 13, 2021)
Last evaluated:
Nov 10, 2020
Accession:
VCV000698283.5
Variation ID:
698283
Description:
single nucleotide variant
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NM_007327.4(GRIN1):c.403C>T (p.Leu135=)

Allele ID
687468
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.3
Genomic location
9: 137145735 (GRCh38) GRCh38 UCSC
9: 140040187 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.140040187C>T
NC_000009.12:g.137145735C>T
NG_011507.1:g.11579C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:137145734:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00012
Exome Aggregation Consortium (ExAC) 0.00006
The Genome Aggregation Database (gnomAD) 0.00022
The Genome Aggregation Database (gnomAD), exomes 0.00004
1000 Genomes Project 0.00080
Links
dbSNP: rs200400213
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 10, 2020 RCV000865614.3
Likely benign 1 criteria provided, single submitter Jun 17, 2020 RCV001560984.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Nov 10, 2020)
criteria provided, single submitter
Method: clinical testing
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
Allele origin: germline
Invitae
Accession: SCV001006608.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jun 17, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001783499.1
Submitted: (Aug 13, 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 rs200400213...

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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 23, 2021