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_001134407.3(GRIN2A):c.306C>T (p.Asp102=)

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 25, 2021)
Last evaluated:
Feb 1, 2021
Accession:
VCV000386121.3
Variation ID:
386121
Description:
single nucleotide variant
Help

NM_001134407.3(GRIN2A):c.306C>T (p.Asp102=)

Allele ID
376976
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.2
Genomic location
16: 10180106 (GRCh38) GRCh38 UCSC
16: 10273963 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.10180106G>A
NC_000016.9:g.10273963G>A
NG_011812.1:g.7649C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:10180105:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00003
1000 Genomes Project 0.00040
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00008
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00006
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA7897004
dbSNP: rs200850130
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Feb 1, 2021 RCV000710140.3
Likely benign 1 criteria provided, single submitter May 17, 2017 RCV000550789.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GRIN2A Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1221 1267

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(May 17, 2017)
criteria provided, single submitter
Method: clinical testing
Epilepsy, focal, with speech disorder and with or without mental retardation
Allele origin: germline
Invitae
Accession: SCV000638240.1
Submitted: (Oct 05, 2017)
Evidence details
Benign
(Oct 25, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000613548.2
Submitted: (Aug 31, 2018)
Evidence details
Likely benign
(Feb 01, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000527650.4
Submitted: (Sep 25, 2021)
Evidence details

Functional evidence

Help
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

Help
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 rs200850130...

Help
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 Nov 27, 2021