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NM_007327.4(GRIN1):c.738G>A (p.Val246=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 3, 2020
Accession:
VCV001147805.1
Variation ID:
1147805
Description:
single nucleotide variant
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NM_007327.4(GRIN1):c.738G>A (p.Val246=)

Allele ID
1140384
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.3
Genomic location
9: 137156735 (GRCh38) GRCh38 UCSC
9: 140051187 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.140051187G>A
NC_000009.12:g.137156735G>A
NM_007327.4:c.738G>A MANE Select NP_015566.1:p.Val246= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:137156734:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Oct 3, 2020 RCV001487425.1
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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
(Oct 03, 2020)
criteria provided, single submitter
Method: clinical testing
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
Allele origin: germline
Invitae
Accession: SCV001691911.1
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.

Record last updated Jun 14, 2021