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NM_007327.4(GRIN1):c.105G>A (p.Thr35=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 23, 2021)
Last evaluated:
Nov 21, 2020
Accession:
VCV000385286.5
Variation ID:
385286
Description:
single nucleotide variant
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NM_007327.4(GRIN1):c.105G>A (p.Thr35=)

Allele ID
371129
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.3
Genomic location
9: 137139591 (GRCh38) GRCh38 UCSC
9: 140034043 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.140034043G>A
NC_000009.12:g.137139591G>A
NG_011507.1:g.5435G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:137139590:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00005
The Genome Aggregation Database (gnomAD) 0.00013
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
Exome Aggregation Consortium (ExAC) 0.00007
Trans-Omics for Precision Medicine (TOPMed) 0.00012
Links
ClinGen: CA5360579
dbSNP: rs144566508
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 21, 2020 RCV000897597.3
Likely benign 1 criteria provided, single submitter Nov 10, 2020 RCV001698201.1
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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
(Nov 21, 2020)
criteria provided, single submitter
Method: clinical testing
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
Allele origin: germline
Invitae
Accession: SCV001041751.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Nov 10, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000526506.5
Submitted: (Sep 23, 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 rs144566508...

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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 Oct 16, 2021