ClinVar Genomic variation as it relates to human health
NM_001346252.4(USP28):c.2069A>G (p.Gln690Arg)
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_001346252.4(USP28):c.2069A>G (p.Gln690Arg)
Variation ID: 2454610 Accession: VCV002454610.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11q23.2 11: 113809158 (GRCh38) [ NCBI UCSC ] 11: 113679880 (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 Apr 15, 2023 May 1, 2024 Feb 22, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001346252.4:c.2069A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001333181.1:p.Gln690Arg missense NM_001301029.2:c.1694A>G NP_001287958.1:p.Gln565Arg missense NM_001346253.2:c.1991A>G NP_001333182.1:p.Gln664Arg missense NM_001346254.2:c.2072A>G NP_001333183.1:p.Gln691Arg missense NM_001346255.2:c.2060A>G NP_001333184.1:p.Gln687Arg missense NM_001346257.2:c.1991A>G NP_001333186.1:p.Gln664Arg missense NM_001346258.2:c.2069A>G NP_001333187.1:p.Gln690Arg missense NM_001346259.2:c.1991A>G NP_001333188.1:p.Gln664Arg missense NM_001346260.2:c.1697A>G NP_001333189.1:p.Gln566Arg missense NM_001346261.2:c.1694A>G NP_001333190.1:p.Gln565Arg missense NM_001346262.2:c.1694A>G NP_001333191.1:p.Gln565Arg missense NM_001346263.2:c.1208A>G NP_001333192.1:p.Gln403Arg missense NM_001346264.2:c.1070A>G NP_001333193.1:p.Gln357Arg missense NM_001346265.2:c.1013A>G NP_001333194.1:p.Gln338Arg missense NM_001346267.2:c.1070A>G NP_001333196.1:p.Gln357Arg missense NM_001346268.2:c.1070A>G NP_001333197.1:p.Gln357Arg missense NM_001346269.2:c.1013A>G NP_001333198.1:p.Gln338Arg missense NM_001346270.2:c.1013A>G NP_001333199.1:p.Gln338Arg missense NM_001346271.2:c.1013A>G NP_001333200.1:p.Gln338Arg missense NM_001346272.2:c.1013A>G NP_001333201.1:p.Gln338Arg missense NM_001400784.1:c.1994A>G NP_001387713.1:p.Gln665Arg missense NM_001400785.1:c.2072A>G NP_001387714.1:p.Gln691Arg missense NM_001400786.1:c.2069A>G NP_001387715.1:p.Gln690Arg missense NM_001400787.1:c.2072A>G NP_001387716.1:p.Gln691Arg missense NM_001400788.1:c.1904A>G NP_001387717.1:p.Gln635Arg missense NM_001400789.1:c.1994A>G NP_001387718.1:p.Gln665Arg missense NM_001400790.1:c.1985A>G NP_001387719.1:p.Gln662Arg missense NM_001400791.1:c.1982A>G NP_001387720.1:p.Gln661Arg missense NM_001400792.1:c.1889A>G NP_001387721.1:p.Gln630Arg missense NM_001400793.1:c.1811A>G NP_001387722.1:p.Gln604Arg missense NM_001400795.1:c.2060A>G NP_001387724.1:p.Gln687Arg missense NM_001400796.1:c.2060A>G NP_001387725.1:p.Gln687Arg missense NM_001400797.1:c.2063A>G NP_001387726.1:p.Gln688Arg missense NM_001400799.1:c.1514A>G NP_001387728.1:p.Gln505Arg missense NM_001400800.1:c.1607A>G NP_001387729.1:p.Gln536Arg missense NM_001400801.1:c.1070A>G NP_001387730.1:p.Gln357Arg missense NM_001400802.1:c.1070A>G NP_001387731.1:p.Gln357Arg missense NM_001400803.1:c.1208A>G NP_001387732.1:p.Gln403Arg missense NM_001400804.1:c.1208A>G NP_001387733.1:p.Gln403Arg missense NM_001400805.1:c.1433A>G NP_001387734.1:p.Gln478Arg missense NM_001400806.1:c.1013A>G NP_001387735.1:p.Gln338Arg missense NM_001400807.1:c.1607A>G NP_001387736.1:p.Gln536Arg missense NM_001400809.1:c.1610A>G NP_001387738.1:p.Gln537Arg missense NM_001400810.1:c.1697A>G NP_001387739.1:p.Gln566Arg missense NM_001400811.1:c.1070A>G NP_001387740.1:p.Gln357Arg missense NM_001400812.1:c.740A>G NP_001387741.1:p.Gln247Arg missense NM_001400813.1:c.1208A>G NP_001387742.1:p.Gln403Arg missense NM_020886.4:c.2069A>G NP_065937.1:p.Gln690Arg missense NR_174609.1:n.1774A>G non-coding transcript variant NC_000011.10:g.113809158T>C NC_000011.9:g.113679880T>C NG_051668.1:g.71413A>G - Protein change
- Q403R, Q537R, Q662R, Q688R, Q691R, Q338R, Q565R, Q661R, Q690R, Q357R, Q604R, Q630R, Q247R, Q478R, Q505R, Q536R, Q566R, Q635R, Q664R, Q665R, Q687R
- Other names
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- Canonical SPDI
- NC_000011.10:113809157: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
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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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USP28 | - | - |
GRCh38 GRCh37 |
60 | 80 |
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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Uncertain significance (1) |
criteria provided, single submitter
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Feb 22, 2023 | RCV004251953.1 |
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
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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Uncertain significance
(Feb 22, 2023)
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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: SCV003869978.2
First in ClinVar: Apr 15, 2023 Last updated: May 01, 2024 |
Comment:
The c.2069A>G (p.Q690R) alteration is located in exon 17 (coding exon 17) of the USP28 gene. This alteration results from a A to G substitution … (more)
The c.2069A>G (p.Q690R) alteration is located in exon 17 (coding exon 17) of the USP28 gene. This alteration results from a A to G substitution at nucleotide position 2069, causing the glutamine (Q) at amino acid position 690 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 Oct 13, 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.