NM_001278064.2(GRM1):c.3214C>G (p.Pro1072Ala) AND not provided

Germline classification:: Benign/Likely benign (4 submissions)
Last evaluated:: Jan 15, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000514337.12

Allele description [Variation Report for NM_001278064.2(GRM1):c.3214C>G (p.Pro1072Ala)]

NM_001278064.2(GRM1):c.3214C>G (p.Pro1072Ala)

Gene:

GRM1:glutamate metabotropic receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q24.3

Genomic location:

Preferred name:

NM_001278064.2(GRM1):c.3214C>G (p.Pro1072Ala)

HGVS:

NC_000006.12:g.146434425C>G
NG_012839.2:g.411780C>G
NM_001278064.2:c.3214C>GMANE SELECT
NM_001278065.2:c.*578C>G
NM_001278066.1:c.*543C>G
NM_001278067.1:c.*452C>G
NP_001264993.1:p.Pro1072Ala
NC_000006.11:g.146755561C>G
NG_012839.1:g.411780C>G
NM_001278064.1:c.3214C>G
p.PRO1072ALA

Protein change:

P1072A

Links:

dbSNP: rs146753539

NCBI 1000 Genomes Browser:

rs146753539

Molecular consequence:

NM_001278065.2:c.*578C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001278066.1:c.*543C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001278067.1:c.*452C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001278064.2:c.3214C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Persicimonas caeni strain YN101 16S ribosomal RNA gene, partial sequence
Persicimonas caeni strain YN101 16S ribosomal RNA gene, partial sequence
gi|1442824775|gb|MH718301.1|

Nucleotide
Caenorhabditis elegans RNA interference defective protein 10 (rde-10), partial m...
Caenorhabditis elegans RNA interference defective protein 10 (rde-10), partial mRNA
gi|392885167|ref|NM_058777.6|

Nucleotide
starch synthase IIa-3 [Triticum aestivum]
starch synthase IIa-3 [Triticum aestivum]
gi|8953573|emb|CAB96627.1|

Protein
Left ventricular systolic dysfunction
Left ventricular systolic dysfunction

MedGen
C1277187[conceptid] (1)
MedGen

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000610898	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jun 15, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000613565	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Dec 20, 2018)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 22448230, 19924463, 26467025
SCV001114398	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 15, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001800766	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Deleterious GRM1 mutations in schizophrenia.

Ayoub MA, Angelicheva D, Vile D, Chandler D, Morar B, Cavanaugh JA, Visscher PM, Jablensky A, Pfleger KD, Kalaydjieva L.

PLoS One. 2012;7(3):e32849. doi: 10.1371/journal.pone.0032849. Epub 2012 Mar 20.

PubMed [citation]

PMID:: 22448230
PMCID:: PMC3308973

See all PubMed Citations (5)

Details of each submission

From Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000610898.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	0.002587	not provided	not provided

From Athena Diagnostics, SCV000613565.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Invitae, SCV001114398.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001800766.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 15, 2024

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