Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_007327.4(GRIN1):c.2214C>T (p.Phe738=)

Help
Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Mar 14, 2019)
Last evaluated:
Jul 24, 2018
Accession:
VCV000098404.2
Variation ID:
98404
Description:
single nucleotide variant
Help

NM_007327.4(GRIN1):c.2214C>T (p.Phe738=)

Allele ID
104297
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.3
Genomic location
9: 137163211 (GRCh38) GRCh38 UCSC
9: 140057663 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.140057663C>T
NC_000009.12:g.137163211C>T
NM_000832.7:c.2214C>T NP_000823.4:p.Phe738= synonymous
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00003
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00004
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00022
Links
ClinGen: CA225677
dbSNP: rs367543116
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, single submitter Jul 24, 2018 RCV000084695.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GRIN1 - - GRCh38
GRCh37
273 330

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jul 24, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001001765.1
Submitted: (Mar 14, 2019)
Evidence details
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
Psychiatry Genetics Yale University
Accession: SCV000116831.1
Submitted: (Apr 18, 2013)
Evidence details

Citations for this variant

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 Dec 17, 2019