NM_201525.4(ADGRG1):c.1952G>A (p.Trp651Ter) AND Bilateral frontoparietal polymicrogyria

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Mar 1, 2020
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:: RCV000146049.8

Allele description [Variation Report for NM_201525.4(ADGRG1):c.1952G>A (p.Trp651Ter)]

NM_201525.4(ADGRG1):c.1952G>A (p.Trp651Ter)

Gene:

ADGRG1:adhesion G protein-coupled receptor G1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q21

Genomic location:

Preferred name:

NM_201525.4(ADGRG1):c.1952G>A (p.Trp651Ter)

HGVS:

NC_000016.10:g.57663470G>A
NG_011643.1:g.48473G>A
NM_001145770.3:c.1952G>A
NM_001145771.3:c.1970G>A
NM_001145772.3:c.1952G>A
NM_001145773.3:c.1967G>A
NM_001145774.3:c.1952G>A
NM_001290142.2:c.1460G>A
NM_001290143.2:c.1445G>A
NM_001290144.2:c.1427G>A
NM_001370428.1:c.1970G>A
NM_001370429.1:c.1970G>A
NM_001370430.1:c.1970G>A
NM_001370431.1:c.1970G>A
NM_001370432.1:c.1970G>A
NM_001370433.1:c.1967G>A
NM_001370434.1:c.1967G>A
NM_001370435.1:c.1952G>A
NM_001370436.1:c.1952G>A
NM_001370437.1:c.1952G>A
NM_001370438.1:c.1952G>A
NM_001370439.1:c.1952G>A
NM_001370440.1:c.1952G>A
NM_001370441.1:c.1949G>A
NM_001370442.1:c.1796G>A
NM_001370451.1:c.1427G>A
NM_001370453.1:c.1427G>A
NM_001370454.1:c.1427G>A
NM_005682.7:c.1970G>A
NM_201524.4:c.1952G>A
NM_201525.4:c.1952G>AMANE SELECT
NP_001139242.1:p.Trp651Ter
NP_001139243.1:p.Trp657Ter
NP_001139244.1:p.Trp651Ter
NP_001139245.1:p.Trp656Ter
NP_001139246.1:p.Trp651Ter
NP_001277071.1:p.Trp487Ter
NP_001277072.1:p.Trp482Ter
NP_001277073.1:p.Trp476Ter
NP_001357357.1:p.Trp657Ter
NP_001357358.1:p.Trp657Ter
NP_001357359.1:p.Trp657Ter
NP_001357360.1:p.Trp657Ter
NP_001357361.1:p.Trp657Ter
NP_001357362.1:p.Trp656Ter
NP_001357363.1:p.Trp656Ter
NP_001357364.1:p.Trp651Ter
NP_001357365.1:p.Trp651Ter
NP_001357366.1:p.Trp651Ter
NP_001357367.1:p.Trp651Ter
NP_001357368.1:p.Trp651Ter
NP_001357369.1:p.Trp651Ter
NP_001357370.1:p.Trp650Ter
NP_001357371.1:p.Trp599Ter
NP_001357380.1:p.Trp476Ter
NP_001357382.1:p.Trp476Ter
NP_001357383.1:p.Trp476Ter
NP_005673.3:p.Trp657Ter
NP_958932.1:p.Trp651Ter
NP_958933.1:p.Trp651Ter
NC_000016.9:g.57697382G>A
NM_005682.5:c.1970G>A

Protein change:

W476*

Links:

dbSNP: rs587783657

NCBI 1000 Genomes Browser:

rs587783657

Molecular consequence:

NM_001145770.3:c.1952G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001145771.3:c.1970G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001145772.3:c.1952G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001145773.3:c.1967G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001145774.3:c.1952G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001290142.2:c.1460G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001290143.2:c.1445G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001290144.2:c.1427G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370428.1:c.1970G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370429.1:c.1970G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370430.1:c.1970G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370431.1:c.1970G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370432.1:c.1970G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370433.1:c.1967G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370434.1:c.1967G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370435.1:c.1952G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370436.1:c.1952G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370437.1:c.1952G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370438.1:c.1952G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370439.1:c.1952G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370440.1:c.1952G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370441.1:c.1949G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370442.1:c.1796G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370451.1:c.1427G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370453.1:c.1427G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370454.1:c.1427G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_005682.7:c.1970G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_201524.4:c.1952G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_201525.4:c.1952G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Bilateral frontoparietal polymicrogyria
Synonyms:: CEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECT; CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 14A (BILATERAL FRONTOPARIETAL)
Identifiers:: MONDO: MONDO:0011738; MedGen: C1847352; OMIM: 606854

Recent activity

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HIV-1 isolate STIPSEQ-MRC001-HG-MCV-C03-RPN2 from Belgium vif protein (vif) gene...
HIV-1 isolate STIPSEQ-MRC001-HG-MCV-C03-RPN2 from Belgium vif protein (vif) gene, partial cds; and vpr protein (vpr), tat protein (tat), rev protein (rev), vpu protein (vpu), envelope glycoprotein (env), and nef protein (nef) genes, complete cds
gi|2509246798|gb|OQ596884.1|

Nucleotide
putative peptidase Do [Medicago truncatula]
putative peptidase Do [Medicago truncatula]
gi|1471977995|gb|RHN49660.1||gnl|WG E|MtrunA17_Chr6g0448981

Protein
PREDICTED: Tupaia chinensis semaphorin 7A (John Milton Hagen blood group) (SEMA7...
PREDICTED: Tupaia chinensis semaphorin 7A (John Milton Hagen blood group) (SEMA7A), mRNA
gi|1561663782|ref|XM_006172321.3|

Nucleotide
Cicer arietinum cultivar CDC Frontier chromosome Ca6, ASM33114v1, whole genome s...
Cicer arietinum cultivar CDC Frontier chromosome Ca6, ASM33114v1, whole genome shotgun sequence
gi|484571392|gnl|ASM:GCF_000331155| ef|NC_021165.1||gpp|GPC_000001100.1||gnl|NCBI_GENOMES|33227

Nucleotide
recombination activating protein 1, partial [Pteropus tonganus]
recombination activating protein 1, partial [Pteropus tonganus]
gi|1825636669|gb|QIQ69311.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000193204	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2007)	Pathogenic (Feb 17, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001443038	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 1, 2020)	biparental	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000193204

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2007)

Pathogenic
(Feb 17, 2014)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001443038

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 1, 2020)

biparental

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]

PMID:: 18414213

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

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000193204.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001443038.1

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

Description

Review of the variants reported in Reuter et al., 2017, PMID: 28097321: PVS1_Strong,PM2,PM3_Supporting

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

Last Updated: Sep 29, 2024

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