ClinVar Genomic variation as it relates to human health
NM_016203.4(PRKAG2):c.1289T>G (p.Ile430Arg)
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_016203.4(PRKAG2):c.1289T>G (p.Ile430Arg)
Variation ID: 2862263 Accession: VCV002862263.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7q36.1 7: 151565830 (GRCh38) [ NCBI UCSC ] 7: 151262916 (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 May 5, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_016203.4:c.1289T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_057287.2:p.Ile430Arg missense NM_001040633.2:c.1157T>G NP_001035723.1:p.Ile386Arg missense NM_001304527.2:c.914T>G NP_001291456.1:p.Ile305Arg missense NM_001304531.2:c.566T>G NP_001291460.1:p.Ile189Arg missense NM_001363698.2:c.917T>G NP_001350627.1:p.Ile306Arg missense NM_001407021.1:c.1289T>G NP_001393950.1:p.Ile430Arg missense NM_001407022.1:c.1286T>G NP_001393951.1:p.Ile429Arg missense NM_001407023.1:c.1286T>G NP_001393952.1:p.Ile429Arg missense NM_001407024.1:c.1157T>G NP_001393953.1:p.Ile386Arg missense NM_001407026.1:c.1154T>G NP_001393955.1:p.Ile385Arg missense NM_001407027.1:c.1154T>G NP_001393956.1:p.Ile385Arg missense NM_001407028.1:c.917T>G NP_001393957.1:p.Ile306Arg missense NM_001407029.1:c.914T>G NP_001393958.1:p.Ile305Arg missense NM_001407030.1:c.1001T>G NP_001393959.1:p.Ile334Arg missense NM_001407031.1:c.998T>G NP_001393960.1:p.Ile333Arg missense NM_001407032.1:c.971T>G NP_001393961.1:p.Ile324Arg missense NM_001407033.1:c.965T>G NP_001393962.1:p.Ile322Arg missense NM_001407034.1:c.566T>G NP_001393963.1:p.Ile189Arg missense NM_001407035.1:c.566T>G NP_001393964.1:p.Ile189Arg missense NM_001407036.1:c.563T>G NP_001393965.1:p.Ile188Arg missense NM_001407037.1:c.626T>G NP_001393966.1:p.Ile209Arg missense NM_001407038.1:c.614T>G NP_001393967.1:p.Ile205Arg missense NM_001407039.1:c.563T>G NP_001393968.1:p.Ile188Arg missense NM_001407040.1:c.563T>G NP_001393969.1:p.Ile188Arg missense NM_024429.2:c.566T>G NP_077747.1:p.Ile189Arg missense NC_000007.14:g.151565830A>C NC_000007.13:g.151262916A>C NG_007486.2:g.316402T>G LRG_430:g.316402T>G LRG_430t1:c.1289T>G LRG_430p1:p.Ile430Arg - Protein change
- I188R, I189R, I306R, I385R, I386R, I305R, I429R, I430R, I322R, I324R, I334R, I205R, I209R, I333R
- Other names
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- Canonical SPDI
- NC_000007.14:151565829:A:C
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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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PRKAG2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1133 | 1311 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
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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Uncertain significance (1) |
criteria provided, single submitter
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May 5, 2023 | RCV003617590.2 |
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
Help
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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Uncertain significance
(May 05, 2023)
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criteria provided, single submitter
Method: clinical testing
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Lethal congenital glycogen storage disease of heart
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV004462120.1
First in ClinVar: Feb 20, 2024 Last updated: Feb 20, 2024 |
Comment:
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant … (more)
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PRKAG2 protein function. This variant has not been reported in the literature in individuals affected with PRKAG2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 430 of the PRKAG2 protein (p.Ile430Arg). (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
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
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.