ClinVar Genomic variation as it relates to human health
NM_016203.4(PRKAG2):c.1453A>G (p.Lys485Glu)
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.1453A>G (p.Lys485Glu)
Variation ID: 2136632 Accession: VCV002136632.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7q36.1 7: 151564209 (GRCh38) [ NCBI UCSC ] 7: 151261295 (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 8, 2023 Feb 14, 2024 May 27, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_016203.4:c.1453A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_057287.2:p.Lys485Glu missense NM_001040633.2:c.1321A>G NP_001035723.1:p.Lys441Glu missense NM_001304527.2:c.1078A>G NP_001291456.1:p.Lys360Glu missense NM_001304531.2:c.730A>G NP_001291460.1:p.Lys244Glu missense NM_001363698.2:c.1081A>G NP_001350627.1:p.Lys361Glu missense NM_001407021.1:c.1453A>G NP_001393950.1:p.Lys485Glu missense NM_001407022.1:c.1450A>G NP_001393951.1:p.Lys484Glu missense NM_001407023.1:c.1450A>G NP_001393952.1:p.Lys484Glu missense NM_001407024.1:c.1321A>G NP_001393953.1:p.Lys441Glu missense NM_001407026.1:c.1318A>G NP_001393955.1:p.Lys440Glu missense NM_001407027.1:c.1318A>G NP_001393956.1:p.Lys440Glu missense NM_001407028.1:c.1081A>G NP_001393957.1:p.Lys361Glu missense NM_001407029.1:c.1078A>G NP_001393958.1:p.Lys360Glu missense NM_001407030.1:c.1165A>G NP_001393959.1:p.Lys389Glu missense NM_001407031.1:c.1162A>G NP_001393960.1:p.Lys388Glu missense NM_001407032.1:c.1135A>G NP_001393961.1:p.Lys379Glu missense NM_001407033.1:c.1129A>G NP_001393962.1:p.Lys377Glu missense NM_001407034.1:c.730A>G NP_001393963.1:p.Lys244Glu missense NM_001407035.1:c.730A>G NP_001393964.1:p.Lys244Glu missense NM_001407036.1:c.727A>G NP_001393965.1:p.Lys243Glu missense NM_001407037.1:c.790A>G NP_001393966.1:p.Lys264Glu missense NM_001407038.1:c.778A>G NP_001393967.1:p.Lys260Glu missense NM_001407039.1:c.727A>G NP_001393968.1:p.Lys243Glu missense NM_001407040.1:c.727A>G NP_001393969.1:p.Lys243Glu missense NM_024429.2:c.730A>G NP_077747.1:p.Lys244Glu missense NC_000007.14:g.151564209T>C NC_000007.13:g.151261295T>C NG_007486.2:g.318023A>G LRG_430:g.318023A>G LRG_430t1:c.1453A>G LRG_430p1:p.Lys485Glu - Protein change
- K264E, K377E, K244E, K360E, K361E, K389E, K485E, K243E, K379E, K440E, K441E, K484E, K260E, K388E
- Other names
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- Canonical SPDI
- NC_000007.14:151564208:T: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
Help
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
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
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 |
1034 | 1213 |
Conditions - Germline
Condition
Help
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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Pathogenic (1) |
criteria provided, single submitter
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May 27, 2022 | RCV003037274.2 |
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
Help
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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Pathogenic
(May 27, 2022)
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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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Invitae
Accession: SCV003440628.2
First in ClinVar: Feb 07, 2023 Last updated: Feb 14, 2024 |
Comment:
This missense change has been observed in individual(s) with PRKAG2-related conditions (PMID: 23741347). In at least one individual the variant was observed to be de … (more)
This missense change has been observed in individual(s) with PRKAG2-related conditions (PMID: 23741347). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic. 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 is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 485 of the PRKAG2 protein (p.Lys485Glu). (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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Identification of a novel de novo mutation associated with PRKAG2 cardiac syndrome and early onset of heart failure. | Liu Y | PloS one | 2013 | PMID: 23741347 |
Text-mined citations for this variant ...
HelpRecord last updated Feb 14, 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.