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NM_001134407.3(GRIN2A):c.1329-8C>T

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 2, 2020
Accession:
VCV000129191.7
Variation ID:
129191
Description:
single nucleotide variant
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NM_001134407.3(GRIN2A):c.1329-8C>T

Allele ID
134637
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.2
Genomic location
16: 9841112 (GRCh38) GRCh38 UCSC
16: 9934969 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.9841112G>A
NC_000016.9:g.9934969G>A
NG_011812.1:g.346643C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:9841111:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.01957 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01901
The Genome Aggregation Database (gnomAD), exomes 0.00460
The Genome Aggregation Database (gnomAD) 0.01845
1000 Genomes Project 0.01957
The Genome Aggregation Database (gnomAD) 0.01998
Trans-Omics for Precision Medicine (TOPMed) 0.02097
Exome Aggregation Consortium (ExAC) 0.00568
Trans-Omics for Precision Medicine (TOPMed) 0.01994
Links
ClinGen: CA153037
dbSNP: rs7193290
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Nov 5, 2013 RCV000117180.6
Benign 2 criteria provided, multiple submitters, no conflicts Dec 2, 2020 RCV000361259.8
Benign 1 criteria provided, single submitter Jun 7, 2019 RCV000857979.3
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000305559.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Nov 05, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000168753.9
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Epilepsy, focal, with speech disorder and with or without mental retardation
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000400168.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jun 07, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001144083.1
Submitted: (Sep 25, 2019)
Evidence details
Benign
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
Epilepsy, focal, with speech disorder and with or without mental retardation
Allele origin: germline
Invitae
Accession: SCV000562531.6
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
AllHighlyPenetrant
(Autosomal dominant inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000151344.2
Submitted: (Jun 27, 2014)
Evidence details
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated … (more)

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 rs7193290...

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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 Nov 27, 2021