ClinVar Genomic variation as it relates to human health
NM_001346252.4(USP28):c.1033G>A (p.Asp345Asn)
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.1033G>A (p.Asp345Asn)
Variation ID: 3187328 Accession: VCV003187328.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11q23.2 11: 113829223 (GRCh38) [ NCBI UCSC ] 11: 113699945 (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 May 1, 2024 Aug 11, 2024 Jun 3, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001346252.4:c.1033G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001333181.1:p.Asp345Asn missense NM_001301029.2:c.658G>A NP_001287958.1:p.Asp220Asn missense NM_001346253.2:c.955G>A NP_001333182.1:p.Asp319Asn missense NM_001346254.2:c.1036G>A NP_001333183.1:p.Asp346Asn missense NM_001346255.2:c.1024G>A NP_001333184.1:p.Asp342Asn missense NM_001346257.2:c.955G>A NP_001333186.1:p.Asp319Asn missense NM_001346258.2:c.1033G>A NP_001333187.1:p.Asp345Asn missense NM_001346259.2:c.955G>A NP_001333188.1:p.Asp319Asn missense NM_001346260.2:c.661G>A NP_001333189.1:p.Asp221Asn missense NM_001346261.2:c.658G>A NP_001333190.1:p.Asp220Asn missense NM_001346262.2:c.658G>A NP_001333191.1:p.Asp220Asn missense NM_001346263.2:c.172G>A NP_001333192.1:p.Asp58Asn missense NM_001346264.2:c.34G>A NP_001333193.1:p.Asp12Asn missense NM_001346265.2:c.-101G>A 5 prime UTR NM_001346267.2:c.34G>A NP_001333196.1:p.Asp12Asn missense NM_001346268.2:c.34G>A NP_001333197.1:p.Asp12Asn missense NM_001346269.2:c.-101G>A 5 prime UTR NM_001346270.2:c.-101G>A 5 prime UTR NM_001346271.2:c.-101G>A 5 prime UTR NM_001346272.2:c.-101G>A 5 prime UTR NM_001346273.2:c.1033G>A NP_001333202.1:p.Asp345Asn missense NM_001400784.1:c.958G>A NP_001387713.1:p.Asp320Asn missense NM_001400785.1:c.1036G>A NP_001387714.1:p.Asp346Asn missense NM_001400786.1:c.1033G>A NP_001387715.1:p.Asp345Asn missense NM_001400787.1:c.1036G>A NP_001387716.1:p.Asp346Asn missense NM_001400788.1:c.868G>A NP_001387717.1:p.Asp290Asn missense NM_001400789.1:c.958G>A NP_001387718.1:p.Asp320Asn missense NM_001400790.1:c.949G>A NP_001387719.1:p.Asp317Asn missense NM_001400791.1:c.946G>A NP_001387720.1:p.Asp316Asn missense NM_001400792.1:c.1033G>A NP_001387721.1:p.Asp345Asn missense NM_001400793.1:c.955G>A NP_001387722.1:p.Asp319Asn missense NM_001400794.1:c.955G>A NP_001387723.1:p.Asp319Asn missense NM_001400795.1:c.1024G>A NP_001387724.1:p.Asp342Asn missense NM_001400796.1:c.1024G>A NP_001387725.1:p.Asp342Asn missense NM_001400797.1:c.1027G>A NP_001387726.1:p.Asp343Asn missense NM_001400799.1:c.658G>A NP_001387728.1:p.Asp220Asn missense NM_001400800.1:c.571G>A NP_001387729.1:p.Asp191Asn missense NM_001400801.1:c.34G>A NP_001387730.1:p.Asp12Asn missense NM_001400802.1:c.34G>A NP_001387731.1:p.Asp12Asn missense NM_001400803.1:c.172G>A NP_001387732.1:p.Asp58Asn missense NM_001400804.1:c.172G>A NP_001387733.1:p.Asp58Asn missense NM_001400805.1:c.397G>A NP_001387734.1:p.Asp133Asn missense NM_001400806.1:c.-101G>A 5 prime UTR NM_001400807.1:c.571G>A NP_001387736.1:p.Asp191Asn missense NM_001400809.1:c.574G>A NP_001387738.1:p.Asp192Asn missense NM_001400810.1:c.661G>A NP_001387739.1:p.Asp221Asn missense NM_001400811.1:c.34G>A NP_001387740.1:p.Asp12Asn missense NM_001400812.1:c.-411G>A 5 prime UTR NM_001400813.1:c.172G>A NP_001387742.1:p.Asp58Asn missense NM_020886.4:c.1033G>A NP_065937.1:p.Asp345Asn missense NR_174609.1:n.1221G>A non-coding transcript variant NC_000011.10:g.113829223C>T NC_000011.9:g.113699945C>T NG_051668.1:g.51348G>A - Protein change
- D133N, D192N, D221N, D290N, D319N, D12N, D191N, D220N, D316N, D343N, D58N, D320N, D342N, D346N, D317N, D345N
- Other names
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- Canonical SPDI
- NC_000011.10:113829222:C:T
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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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USP28 | - | - |
GRCh38 GRCh37 |
60 | 80 |
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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Uncertain significance (1) |
criteria provided, single submitter
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Jun 3, 2024 | RCV004484692.2 |
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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Uncertain significance
(Jun 03, 2024)
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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: SCV004977388.2
First in ClinVar: May 01, 2024 Last updated: Aug 11, 2024 |
Comment:
The c.1033G>A (p.D345N) alteration is located in exon 10 (coding exon 10) of the USP28 gene. This alteration results from a G to A substitution … (more)
The c.1033G>A (p.D345N) alteration is located in exon 10 (coding exon 10) of the USP28 gene. This alteration results from a G to A substitution at nucleotide position 1033, causing the aspartic acid (D) at amino acid position 345 to be replaced by an asparagine (N). 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 Aug 11, 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.