ClinVar Genomic variation as it relates to human health
NM_006210.3(PEG3):c.4748A>G (p.Gln1583Arg)
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_006210.3(PEG3):c.4748A>G (p.Gln1583Arg)
Variation ID: 2253382 Accession: VCV002253382.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 19q13.43 19: 56813694 (GRCh38) [ NCBI UCSC ] 19: 57325062 (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 May 1, 2024 Oct 6, 2021 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001387356.1:c.490+4052A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
intron variant NM_006210.3:c.4748A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_006201.1:p.Gln1583Arg missense NM_001146184.2:c.4748A>G NP_001139656.1:p.Gln1583Arg missense NM_001146185.2:c.4370A>G NP_001139657.1:p.Gln1457Arg missense NM_001146187.2:c.4376A>G NP_001139659.1:p.Gln1459Arg missense NM_001146326.2:c.397+4906A>G intron variant NM_001146327.2:c.397+4906A>G intron variant NM_001369717.1:c.4754A>G NP_001356646.1:p.Gln1585Arg missense NM_001369718.1:c.4754A>G NP_001356647.1:p.Gln1585Arg missense NM_001369719.1:c.4661A>G NP_001356648.1:p.Gln1554Arg missense NM_001369720.1:c.4376A>G NP_001356649.1:p.Gln1459Arg missense NM_001369721.1:c.4376A>G NP_001356650.1:p.Gln1459Arg missense NM_001369722.1:c.4376A>G NP_001356651.1:p.Gln1459Arg missense NM_001369723.1:c.4376A>G NP_001356652.1:p.Gln1459Arg missense NM_001369724.1:c.4376A>G NP_001356653.1:p.Gln1459Arg missense NM_001369725.1:c.4376A>G NP_001356654.1:p.Gln1459Arg missense NM_001369726.1:c.4376A>G NP_001356655.1:p.Gln1459Arg missense NM_001369727.1:c.4376A>G NP_001356656.1:p.Gln1459Arg missense NM_001369728.1:c.4376A>G NP_001356657.1:p.Gln1459Arg missense NM_001369729.1:c.4376A>G NP_001356658.1:p.Gln1459Arg missense NM_001369730.1:c.4376A>G NP_001356659.1:p.Gln1459Arg missense NM_001369731.1:c.4376A>G NP_001356660.1:p.Gln1459Arg missense NM_001369732.1:c.4376A>G NP_001356661.1:p.Gln1459Arg missense NM_001369733.1:c.4376A>G NP_001356662.1:p.Gln1459Arg missense NM_001369734.1:c.4283A>G NP_001356663.1:p.Gln1428Arg missense NM_001369735.1:c.4283A>G NP_001356664.1:p.Gln1428Arg missense NM_001369736.1:c.4283A>G NP_001356665.1:p.Gln1428Arg missense NM_001369737.1:c.4283A>G NP_001356666.1:p.Gln1428Arg missense NM_001369738.1:c.4283A>G NP_001356667.1:p.Gln1428Arg missense NM_001369739.1:c.4376A>G NP_001356668.1:p.Gln1459Arg missense NM_001369770.1:c.397+4906A>G intron variant NM_001369771.1:c.397+4906A>G intron variant NM_001369772.1:c.397+4906A>G intron variant NM_001369773.1:c.490+4052A>G intron variant NM_001369774.1:c.490+4052A>G intron variant NM_001387357.1:c.397+4906A>G intron variant NM_001387358.1:c.397+4906A>G intron variant NM_015363.5:c.397+4906A>G intron variant NR_023847.2:n.1215T>C non-coding transcript variant NC_000019.10:g.56813694T>C NC_000019.9:g.57325062T>C NG_012989.1:g.32036A>G - Protein change
- Q1554R, Q1583R, Q1428R, Q1459R, Q1457R, Q1585R
- Other names
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- Canonical SPDI
- NC_000019.10:56813693: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
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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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PEG3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 163 | |
ZIM2 | - | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 191 |
PEG3-AS1 | - | - | - | GRCh38 | - | 19 |
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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Oct 6, 2021 | RCV004110118.1 |
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
(Oct 06, 2021)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV003583053.2
First in ClinVar: Feb 07, 2023 Last updated: May 01, 2024 |
Comment:
The c.4748A>G (p.Q1583R) alteration is located in exon 10 (coding exon 7) of the PEG3 gene. This alteration results from a A to G substitution … (more)
The c.4748A>G (p.Q1583R) alteration is located in exon 10 (coding exon 7) of the PEG3 gene. This alteration results from a A to G substitution at nucleotide position 4748, causing the glutamine (Q) at amino acid position 1583 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (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 Nov 03, 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.