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NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Sep 21, 2021)
Last evaluated:
Aug 10, 2021
Accession:
VCV000129211.6
Variation ID:
129211
Description:
single nucleotide variant
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NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=)

Allele ID
134657
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q24.3
Genomic location
6: 146434379 (GRCh38) GRCh38 UCSC
6: 146755515 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.146755515T>G
NC_000006.12:g.146434379T>G
NG_012839.1:g.411734T>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:146434378:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.30931 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.67424
The Genome Aggregation Database (gnomAD), exomes 0.56450
Trans-Omics for Precision Medicine (TOPMed) 0.65240
1000 Genomes Project 0.69070
Exome Aggregation Consortium (ExAC) 0.57728
The Genome Aggregation Database (gnomAD) 0.63390
Links
ClinGen: CA153058
dbSNP: rs6923864
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Aug 9, 2019 RCV000992105.3
Benign 2 criteria provided, single submitter Aug 10, 2021 RCV000611478.2
Benign 1 criteria provided, single submitter Aug 10, 2021 RCV001701604.1
Benign/Likely benign 2 no assertion criteria provided - RCV000117206.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GRM1 - - GRCh38
GRCh37
167 186

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jul 15, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001144104.1
Submitted: (Sep 25, 2019)
Evidence details
Benign
(Aug 09, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001866209.1
Submitted: (Sep 14, 2021)
Evidence details
Benign
(Aug 10, 2021)
criteria provided, single submitter
Method: clinical testing
Spinocerebellar ataxia 44
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001933992.1
Submitted: (Sep 21, 2021)
Evidence details
Benign
(Aug 10, 2021)
criteria provided, single submitter
Method: clinical testing
Spinocerebellar ataxia, autosomal recessive 13
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001933993.1
Submitted: (Sep 21, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
AllHighlyPenetrant
(Autosomal recessive inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000151370.2
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)
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001971157.1
Submitted: (Sep 21, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
Spinocerebellar ataxia, autosomal recessive 13
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000734484.1
Submitted: (Apr 04, 2018)
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 rs6923864...

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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 06, 2021