ClinVar Genomic variation as it relates to human health
NM_201525.4(ADGRG1):c.1098_1099del (p.Cys366_Glu367delinsTer)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_201525.4(ADGRG1):c.1098_1099del (p.Cys366_Glu367delinsTer)
Variation ID: 2846594 Accession: VCV002846594.1
- Type and length
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Microsatellite, 2 bp
- Location
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Cytogenetic: 16q21 16: 57656545-57656546 (GRCh38) [ NCBI UCSC ] 16: 57690457-57690458 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Feb 20, 2024 Feb 20, 2024 Mar 17, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_201525.4:c.1098_1099del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_958933.1:p.Cys366_Glu367delinsTer nonsense NM_001145770.3:c.1098_1099del NP_001139242.1:p.Cys366_Glu367delinsTer nonsense NM_001145771.3:c.1098_1099del NP_001139243.1:p.Cys366_Glu367delinsTer nonsense NM_001145772.3:c.1098_1099del NP_001139244.1:p.Cys366_Glu367delinsTer nonsense NM_001145773.3:c.1113_1114del NP_001139245.1:p.Cys371_Glu372delinsTer nonsense NM_001145774.3:c.1098_1099del NP_001139246.1:p.Cys366_Glu367delinsTer nonsense NM_001290142.2:c.588_589del NP_001277071.1:p.Cys196_Glu197delinsTer nonsense NM_001290143.2:c.573_574del NP_001277072.1:p.Cys191_Glu192delinsTer nonsense NM_001290144.2:c.573_574del NP_001277073.1:p.Cys191_Glu192delinsTer nonsense NM_001370428.1:c.1098_1099del NP_001357357.1:p.Cys366_Glu367delinsTer nonsense NM_001370429.1:c.1098_1099del NP_001357358.1:p.Cys366_Glu367delinsTer nonsense NM_001370430.1:c.1098_1099del NP_001357359.1:p.Cys366_Glu367delinsTer nonsense NM_001370431.1:c.1098_1099del NP_001357360.1:p.Cys366_Glu367delinsTer nonsense NM_001370432.1:c.1098_1099del NP_001357361.1:p.Cys366_Glu367delinsTer nonsense NM_001370433.1:c.1113_1114del NP_001357362.1:p.Cys371_Glu372delinsTer nonsense NM_001370434.1:c.1095_1096del NP_001357363.1:p.Cys365_Glu366delinsTer nonsense NM_001370435.1:c.1098_1099del NP_001357364.1:p.Cys366_Glu367delinsTer nonsense NM_001370436.1:c.1098_1099del NP_001357365.1:p.Cys366_Glu367delinsTer nonsense NM_001370437.1:c.1098_1099del NP_001357366.1:p.Cys366_Glu367delinsTer nonsense NM_001370438.1:c.1098_1099del NP_001357367.1:p.Cys366_Glu367delinsTer nonsense NM_001370439.1:c.1098_1099del NP_001357368.1:p.Cys366_Glu367delinsTer nonsense NM_001370440.1:c.1098_1099del NP_001357369.1:p.Cys366_Glu367delinsTer nonsense NM_001370441.1:c.1095_1096del NP_001357370.1:p.Cys365_Glu366delinsTer nonsense NM_001370442.1:c.942_943del NP_001357371.1:p.Cys314_Glu315delinsTer nonsense NM_001370451.1:c.573_574del NP_001357380.1:p.Cys191_Glu192delinsTer nonsense NM_001370453.1:c.573_574del NP_001357382.1:p.Cys191_Glu192delinsTer nonsense NM_001370454.1:c.573_574del NP_001357383.1:p.Cys191_Glu192delinsTer nonsense NM_005682.7:c.1098_1099del NP_005673.3:p.Cys366_Glu367delinsTer nonsense NM_201524.4:c.1098_1099del NP_958932.1:p.Cys366_Glu367delinsTer nonsense NC_000016.10:g.57656546TG[1] NC_000016.9:g.57690458TG[1] NG_011643.1:g.41549TG[1] - Protein change
- Other names
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- Canonical SPDI
- NC_000016.10:57656544:GTGTG:GTG
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
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The frequency of the allele represented by this VCV record.
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- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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ADGRG1 | - | - |
GRCh38 GRCh37 |
943 | 971 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (1) |
criteria provided, single submitter
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Mar 17, 2023 | RCV003690367.2 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
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The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
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The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Mar 17, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV004446354.1
First in ClinVar: Feb 20, 2024 Last updated: Feb 20, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ADGRG1-related conditions. … (more)
For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ADGRG1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys366*) in the ADGRG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADGRG1 are known to be pathogenic (PMID: 15044805, 20929962). (less)
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Germline Functional Evidence
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 germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. | Bahi-Buisson N | Brain : a journal of neurology | 2010 | PMID: 20929962 |
G protein-coupled receptor-dependent development of human frontal cortex. | Piao X | Science (New York, N.Y.) | 2004 | PMID: 15044805 |
Text-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.