ClinVar Genomic variation as it relates to human health
NM_001346252.4(USP28):c.1270C>G (p.Gln424Glu)
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.1270C>G (p.Gln424Glu)
Variation ID: 3187331 Accession: VCV003187331.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11q23.2 11: 113823618 (GRCh38) [ NCBI UCSC ] 11: 113694340 (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 May 1, 2024 Dec 13, 2021 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001346252.4:c.1270C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001333181.1:p.Gln424Glu missense NM_001301029.2:c.895C>G NP_001287958.1:p.Gln299Glu missense NM_001346253.2:c.1192C>G NP_001333182.1:p.Gln398Glu missense NM_001346254.2:c.1273C>G NP_001333183.1:p.Gln425Glu missense NM_001346255.2:c.1261C>G NP_001333184.1:p.Gln421Glu missense NM_001346257.2:c.1192C>G NP_001333186.1:p.Gln398Glu missense NM_001346258.2:c.1270C>G NP_001333187.1:p.Gln424Glu missense NM_001346259.2:c.1192C>G NP_001333188.1:p.Gln398Glu missense NM_001346260.2:c.898C>G NP_001333189.1:p.Gln300Glu missense NM_001346261.2:c.895C>G NP_001333190.1:p.Gln299Glu missense NM_001346262.2:c.895C>G NP_001333191.1:p.Gln299Glu missense NM_001346263.2:c.409C>G NP_001333192.1:p.Gln137Glu missense NM_001346264.2:c.271C>G NP_001333193.1:p.Gln91Glu missense NM_001346265.2:c.214C>G NP_001333194.1:p.Gln72Glu missense NM_001346267.2:c.271C>G NP_001333196.1:p.Gln91Glu missense NM_001346268.2:c.271C>G NP_001333197.1:p.Gln91Glu missense NM_001346269.2:c.214C>G NP_001333198.1:p.Gln72Glu missense NM_001346270.2:c.214C>G NP_001333199.1:p.Gln72Glu missense NM_001346271.2:c.214C>G NP_001333200.1:p.Gln72Glu missense NM_001346272.2:c.214C>G NP_001333201.1:p.Gln72Glu missense NM_001346273.2:c.1270C>G NP_001333202.1:p.Gln424Glu missense NM_001400784.1:c.1195C>G NP_001387713.1:p.Gln399Glu missense NM_001400785.1:c.1273C>G NP_001387714.1:p.Gln425Glu missense NM_001400786.1:c.1270C>G NP_001387715.1:p.Gln424Glu missense NM_001400787.1:c.1273C>G NP_001387716.1:p.Gln425Glu missense NM_001400788.1:c.1105C>G NP_001387717.1:p.Gln369Glu missense NM_001400789.1:c.1195C>G NP_001387718.1:p.Gln399Glu missense NM_001400790.1:c.1186C>G NP_001387719.1:p.Gln396Glu missense NM_001400791.1:c.1183C>G NP_001387720.1:p.Gln395Glu missense NM_001400792.1:c.1270C>G NP_001387721.1:p.Gln424Glu missense NM_001400793.1:c.1192C>G NP_001387722.1:p.Gln398Glu missense NM_001400794.1:c.1192C>G NP_001387723.1:p.Gln398Glu missense NM_001400795.1:c.1261C>G NP_001387724.1:p.Gln421Glu missense NM_001400796.1:c.1261C>G NP_001387725.1:p.Gln421Glu missense NM_001400797.1:c.1264C>G NP_001387726.1:p.Gln422Glu missense NM_001400799.1:c.895C>G NP_001387728.1:p.Gln299Glu missense NM_001400800.1:c.808C>G NP_001387729.1:p.Gln270Glu missense NM_001400801.1:c.271C>G NP_001387730.1:p.Gln91Glu missense NM_001400802.1:c.271C>G NP_001387731.1:p.Gln91Glu missense NM_001400803.1:c.409C>G NP_001387732.1:p.Gln137Glu missense NM_001400804.1:c.409C>G NP_001387733.1:p.Gln137Glu missense NM_001400805.1:c.634C>G NP_001387734.1:p.Gln212Glu missense NM_001400806.1:c.214C>G NP_001387735.1:p.Gln72Glu missense NM_001400807.1:c.808C>G NP_001387736.1:p.Gln270Glu missense NM_001400809.1:c.811C>G NP_001387738.1:p.Gln271Glu missense NM_001400810.1:c.898C>G NP_001387739.1:p.Gln300Glu missense NM_001400811.1:c.271C>G NP_001387740.1:p.Gln91Glu missense NM_001400812.1:c.-174C>G 5 prime UTR NM_001400813.1:c.409C>G NP_001387742.1:p.Gln137Glu missense NM_020886.4:c.1270C>G NP_065937.1:p.Gln424Glu missense NR_174609.1:n.1458C>G non-coding transcript variant NC_000011.10:g.113823618G>C NC_000011.9:g.113694340G>C NG_051668.1:g.56953C>G - Protein change
- Q422E, Q137E, Q271E, Q299E, Q399E, Q72E, Q212E, Q300E, Q369E, Q395E, Q424E, Q91E, Q270E, Q396E, Q398E, Q421E, Q425E
- Other names
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- Canonical SPDI
- NC_000011.10:113823617:G: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
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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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Dec 13, 2021 | RCV004484695.1 |
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
(Dec 13, 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: SCV004977391.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
The c.1270C>G (p.Q424E) alteration is located in exon 12 (coding exon 12) of the USP28 gene. This alteration results from a C to G substitution … (more)
The c.1270C>G (p.Q424E) alteration is located in exon 12 (coding exon 12) of the USP28 gene. This alteration results from a C to G substitution at nucleotide position 1270, causing the glutamine (Q) at amino acid position 424 to be replaced by a glutamic acid (E). 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 May 08, 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.