The c.2993A>G (p.Q998R) alteration is located in exon 8 (coding exon 1) of the ZBTB38 gene. This alteration results from a A to G substitution at nucleotide position 2993, causing the glutamine (Q) at amino acid position 998 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_001376113.1(ZBTB38):c.2993A>G (p.Gln998Arg)
Germline
Classification
Help
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.
(1)
Help
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.
Uncertain significance
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001376113.1(ZBTB38):c.2993A>G (p.Gln998Arg)
Variation ID: 2472698 Accession: VCV002472698.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 3q23 3: 141445381 (GRCh38) [ NCBI UCSC ] 3: 141164223 (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 Mar 14, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001376113.1:c.2993A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001363042.1:p.Gln998Arg missense NM_001080412.3:c.2993A>G NP_001073881.2:p.Gln998Arg missense NM_001350099.2:c.2993A>G NP_001337028.1:p.Gln998Arg missense NM_001350100.2:c.2993A>G NP_001337029.1:p.Gln998Arg missense NM_001376112.1:c.2993A>G NP_001363041.1:p.Gln998Arg missense NM_001376114.1:c.2993A>G NP_001363043.1:p.Gln998Arg missense NM_001376115.1:c.2993A>G NP_001363044.1:p.Gln998Arg missense NM_001376116.1:c.2993A>G NP_001363045.1:p.Gln998Arg missense NM_001376117.1:c.2993A>G NP_001363046.1:p.Gln998Arg missense NM_001376118.1:c.2993A>G NP_001363047.1:p.Gln998Arg missense NM_001376119.1:c.2993A>G NP_001363048.1:p.Gln998Arg missense NM_001376120.1:c.2993A>G NP_001363049.1:p.Gln998Arg missense NM_001376121.1:c.2993A>G NP_001363050.1:p.Gln998Arg missense NM_001376122.1:c.2993A>G NP_001363051.1:p.Gln998Arg missense NM_001376123.1:c.2993A>G NP_001363052.1:p.Gln998Arg missense NM_001376124.1:c.2993A>G NP_001363053.1:p.Gln998Arg missense NM_001376125.1:c.2993A>G NP_001363054.1:p.Gln998Arg missense NM_001376126.1:c.2993A>G NP_001363055.1:p.Gln998Arg missense NM_001376127.1:c.2993A>G NP_001363056.1:p.Gln998Arg missense NM_001376128.1:c.2993A>G NP_001363057.1:p.Gln998Arg missense NM_001376142.1:c.2993A>G NP_001363071.1:p.Gln998Arg missense NM_001376143.1:c.2993A>G NP_001363072.1:p.Gln998Arg missense NM_001376150.1:c.2993A>G NP_001363079.1:p.Gln998Arg missense NM_001376152.1:c.2993A>G NP_001363081.1:p.Gln998Arg missense NM_001376157.1:c.2993A>G NP_001363086.1:p.Gln998Arg missense NM_001376158.1:c.2993A>G NP_001363087.1:p.Gln998Arg missense NM_001376159.1:c.2993A>G NP_001363088.1:p.Gln998Arg missense NM_001376160.1:c.2993A>G NP_001363089.1:p.Gln998Arg missense NM_001376161.1:c.2993A>G NP_001363090.1:p.Gln998Arg missense NM_001376162.1:c.2993A>G NP_001363091.1:p.Gln998Arg missense NM_001376163.1:c.2993A>G NP_001363092.1:p.Gln998Arg missense NM_001376164.1:c.2993A>G NP_001363093.1:p.Gln998Arg missense NM_001376165.1:c.2993A>G NP_001363094.1:p.Gln998Arg missense NM_001376166.1:c.2993A>G NP_001363095.1:p.Gln998Arg missense NM_001376167.1:c.2993A>G NP_001363096.1:p.Gln998Arg missense NM_001376168.1:c.2993A>G NP_001363097.1:p.Gln998Arg missense NM_001376169.1:c.2993A>G NP_001363098.1:p.Gln998Arg missense NM_001376170.1:c.2993A>G NP_001363099.1:p.Gln998Arg missense NM_001376171.1:c.2993A>G NP_001363100.1:p.Gln998Arg missense NM_001376172.1:c.2993A>G NP_001363101.1:p.Gln998Arg missense NM_001376173.1:c.2993A>G NP_001363102.1:p.Gln998Arg missense NM_001376174.1:c.2993A>G NP_001363103.1:p.Gln998Arg missense NM_001376175.1:c.2993A>G NP_001363104.1:p.Gln998Arg missense NM_001376176.1:c.2993A>G NP_001363105.1:p.Gln998Arg missense NM_001376177.1:c.2993A>G NP_001363106.1:p.Gln998Arg missense NM_001376178.1:c.2993A>G NP_001363107.1:p.Gln998Arg missense NM_001376179.1:c.2993A>G NP_001363108.1:p.Gln998Arg missense NM_001376180.1:c.2993A>G NP_001363109.1:p.Gln998Arg missense NM_001376181.1:c.2993A>G NP_001363110.1:p.Gln998Arg missense NM_001376182.1:c.2993A>G NP_001363111.1:p.Gln998Arg missense NM_001376183.1:c.2993A>G NP_001363112.1:p.Gln998Arg missense NM_001376184.1:c.2993A>G NP_001363113.1:p.Gln998Arg missense NM_001376185.1:c.2993A>G NP_001363114.1:p.Gln998Arg missense NM_001376186.1:c.2993A>G NP_001363115.1:p.Gln998Arg missense NM_001376187.1:c.2993A>G NP_001363116.1:p.Gln998Arg missense NM_001376188.1:c.2993A>G NP_001363117.1:p.Gln998Arg missense NM_001376189.1:c.2993A>G NP_001363118.1:p.Gln998Arg missense NM_001376190.1:c.2993A>G NP_001363119.1:p.Gln998Arg missense NM_001387941.1:c.2993A>G NP_001374870.1:p.Gln998Arg missense NM_001387945.1:c.2993A>G NP_001374874.1:p.Gln998Arg missense NM_001387947.1:c.2993A>G NP_001374876.1:p.Gln998Arg missense NM_001387948.1:c.2993A>G NP_001374877.1:p.Gln998Arg missense NM_001387950.1:c.2993A>G NP_001374879.1:p.Gln998Arg missense NM_001387952.1:c.2993A>G NP_001374881.1:p.Gln998Arg missense NM_001387953.1:c.2993A>G NP_001374882.1:p.Gln998Arg missense NM_001387957.1:c.2993A>G NP_001374886.1:p.Gln998Arg missense NM_001387959.1:c.2993A>G NP_001374888.1:p.Gln998Arg missense NM_001387960.1:c.2993A>G NP_001374889.1:p.Gln998Arg missense NM_001387962.1:c.2993A>G NP_001374891.1:p.Gln998Arg missense NM_001387966.1:c.2993A>G NP_001374895.1:p.Gln998Arg missense NM_001387967.1:c.2993A>G NP_001374896.1:p.Gln998Arg missense NM_001387968.1:c.2993A>G NP_001374897.1:p.Gln998Arg missense NM_001387969.1:c.2993A>G NP_001374898.1:p.Gln998Arg missense NM_001387970.1:c.2993A>G NP_001374899.1:p.Gln998Arg missense NM_001387971.1:c.2993A>G NP_001374900.1:p.Gln998Arg missense NM_001387972.1:c.2993A>G NP_001374901.1:p.Gln998Arg missense NM_001387973.1:c.2993A>G NP_001374902.1:p.Gln998Arg missense NM_001387974.1:c.2993A>G NP_001374903.1:p.Gln998Arg missense NM_001387975.1:c.2993A>G NP_001374904.1:p.Gln998Arg missense NM_001387976.1:c.2993A>G NP_001374905.1:p.Gln998Arg missense NM_001387977.1:c.2993A>G NP_001374906.1:p.Gln998Arg missense NM_001387978.1:c.2993A>G NP_001374907.1:p.Gln998Arg missense NM_001387979.1:c.2993A>G NP_001374908.1:p.Gln998Arg missense NM_001387980.1:c.2993A>G NP_001374909.1:p.Gln998Arg missense NM_001387981.1:c.2993A>G NP_001374910.1:p.Gln998Arg missense NC_000003.12:g.141445381A>G NC_000003.11:g.141164223A>G NG_021426.1:g.126169A>G - Protein change
- Q998R
- Other names
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- Canonical SPDI
- NC_000003.12:141445380:A:G
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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
Help
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 | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
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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| ZBTB38 | - | - |
GRCh38 GRCh37 |
55 | 77 | |
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
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
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Mar 14, 2023 | RCV004264281.1 |
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
Help
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
(Mar 14, 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: SCV003886157.2
First in ClinVar: Apr 15, 2023 Last updated: May 01, 2024 |
Comment:
The c.2993A>G (p.Q998R) alteration is located in exon 8 (coding exon 1) of the ZBTB38 gene. This alteration results from a A to G substitution … (more)
The c.2993A>G (p.Q998R) alteration is located in exon 8 (coding exon 1) of the ZBTB38 gene. This alteration results from a A to G substitution at nucleotide position 2993, causing the glutamine (Q) at amino acid position 998 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
|
Comment:
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. |
Comment:
The c.2993A>G (p.Q998R) alteration is located in exon 8 (coding exon 1) of the ZBTB38 gene. This alteration results from a A to G substitution at nucleotide position 2993, causing the glutamine (Q) at amino acid position 998 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Citations for germline classification of this variant
Help| There 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 10, 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.