ClinVar Genomic variation as it relates to human health
NM_001174096.2(ZEB1):c.2419A>G (p.Thr807Ala)
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_001174096.2(ZEB1):c.2419A>G (p.Thr807Ala)
Variation ID: 715880 Accession: VCV000715880.8
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 10p11.22 10: 31521751 (GRCh38) [ NCBI UCSC ] 10: 31810679 (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 Dec 17, 2019 Apr 15, 2024 Mar 1, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001174096.2:c.2419A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001167567.1:p.Thr807Ala missense NM_001128128.3:c.2368A>G NP_001121600.1:p.Thr790Ala missense NM_001174093.2:c.2356A>G NP_001167564.1:p.Thr786Ala missense NM_001174094.2:c.2365A>G NP_001167565.1:p.Thr789Ala missense NM_001174095.2:c.2215A>G NP_001167566.1:p.Thr739Ala missense NM_001323638.2:c.1762A>G NP_001310567.1:p.Thr588Ala missense NM_001323641.2:c.1762A>G NP_001310570.1:p.Thr588Ala missense NM_001323642.2:c.1762A>G NP_001310571.1:p.Thr588Ala missense NM_001323643.2:c.1762A>G NP_001310572.1:p.Thr588Ala missense NM_001323644.2:c.1762A>G NP_001310573.1:p.Thr588Ala missense NM_001323645.2:c.1762A>G NP_001310574.1:p.Thr588Ala missense NM_001323646.2:c.1762A>G NP_001310575.1:p.Thr588Ala missense NM_001323647.2:c.1762A>G NP_001310576.1:p.Thr588Ala missense NM_001323648.2:c.1762A>G NP_001310577.1:p.Thr588Ala missense NM_001323649.2:c.1762A>G NP_001310578.1:p.Thr588Ala missense NM_001323650.2:c.1762A>G NP_001310579.1:p.Thr588Ala missense NM_001323651.2:c.1762A>G NP_001310580.1:p.Thr588Ala missense NM_001323652.2:c.1762A>G NP_001310581.1:p.Thr588Ala missense NM_001323653.2:c.1762A>G NP_001310582.1:p.Thr588Ala missense NM_001323654.2:c.1762A>G NP_001310583.1:p.Thr588Ala missense NM_001323655.2:c.1762A>G NP_001310584.1:p.Thr588Ala missense NM_001323656.2:c.1762A>G NP_001310585.1:p.Thr588Ala missense NM_001323657.2:c.1762A>G NP_001310586.1:p.Thr588Ala missense NM_001323658.2:c.1762A>G NP_001310587.1:p.Thr588Ala missense NM_001323659.2:c.1762A>G NP_001310588.1:p.Thr588Ala missense NM_001323660.2:c.1762A>G NP_001310589.1:p.Thr588Ala missense NM_001323661.2:c.1762A>G NP_001310590.1:p.Thr588Ala missense NM_001323662.2:c.1762A>G NP_001310591.1:p.Thr588Ala missense NM_001323663.2:c.1762A>G NP_001310592.1:p.Thr588Ala missense NM_001323664.2:c.1762A>G NP_001310593.1:p.Thr588Ala missense NM_001323665.2:c.1762A>G NP_001310594.1:p.Thr588Ala missense NM_001323666.2:c.1762A>G NP_001310595.1:p.Thr588Ala missense NM_001323671.2:c.1762A>G NP_001310600.1:p.Thr588Ala missense NM_001323672.2:c.1762A>G NP_001310601.1:p.Thr588Ala missense NM_001323673.2:c.1762A>G NP_001310602.1:p.Thr588Ala missense NM_001323674.2:c.2194A>G NP_001310603.1:p.Thr732Ala missense NM_001323675.2:c.2152A>G NP_001310604.1:p.Thr718Ala missense NM_001323676.2:c.2377A>G NP_001310605.1:p.Thr793Ala missense NM_001323677.2:c.2374A>G NP_001310606.1:p.Thr792Ala missense NM_001323678.2:c.2143A>G NP_001310607.1:p.Thr715Ala missense NM_030751.6:c.2416A>G NP_110378.3:p.Thr806Ala missense NC_000010.11:g.31521751A>G NC_000010.10:g.31810679A>G NG_017048.1:g.207579A>G - Protein change
- T718A, T739A, T588A, T792A, T793A, T806A, T789A, T790A, T715A, T732A, T786A, T807A
- Other names
- -
- Canonical SPDI
- NC_000010.11:31521750: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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0.00120 (G)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
1000 Genomes Project 0.00120
1000 Genomes Project 30x 0.00141
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00161
The Genome Aggregation Database (gnomAD) 0.00178
Trans-Omics for Precision Medicine (TOPMed) 0.00192
The Genome Aggregation Database (gnomAD), exomes 0.00225
Exome Aggregation Consortium (ExAC) 0.00251
- 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
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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ZEB1 | - | - |
GRCh38 GRCh37 |
101 | 119 |
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. |
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Benign/Likely benign (2) |
criteria provided, multiple submitters, no conflicts
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Mar 1, 2024 | RCV000888422.7 |
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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Benign
(Nov 28, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV001032057.4
First in ClinVar: Dec 17, 2019 Last updated: Feb 14, 2024 |
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Likely benign
(Mar 01, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV004810865.1
First in ClinVar: Apr 15, 2024 Last updated: Apr 15, 2024 |
Comment:
ZEB1: BP4, BS2
Number of individuals with the variant: 1
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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 rs141194628 ...
HelpRecord last updated Apr 15, 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.