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NM_001278064.2(GRM1):c.2922T>C (p.Pro974=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jul 4, 2021)
Last evaluated:
Jun 1, 2021
Accession:
VCV000585961.3
Variation ID:
585961
Description:
single nucleotide variant
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NM_001278064.2(GRM1):c.2922T>C (p.Pro974=)

Allele ID
576855
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q24.3
Genomic location
6: 146434133 (GRCh38) GRCh38 UCSC
6: 146755269 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.12:g.146434133T>C
NC_000006.11:g.146755269T>C
NM_001278064.2:c.2922T>C MANE Select NP_001264993.1:p.Pro974= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:146434132:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00083
The Genome Aggregation Database (gnomAD) 0.00112
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00046
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00072
Trans-Omics for Precision Medicine (TOPMed) 0.00035
Links
dbSNP: rs142409803
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Jun 1, 2021 RCV000711862.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GRM1 - - GRCh38
GRCh37
137 156

Submitted interpretations and evidence

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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
Athena Diagnostics Inc
Accession: SCV000842268.1
Submitted: (Aug 31, 2018)
Evidence details
Publications
PubMed (1)
Benign
(Feb 20, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001039189.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Jun 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001746875.1
Submitted: (Jul 04, 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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Title Author Journal Year Link
High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism. Kelleher RJ 3rd PloS one 2012 PMID: 22558107

Text-mined citations for rs142409803...

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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 Jul 13, 2021