ClinVar Genomic variation as it relates to human health
NM_001174096.2(ZEB1):c.1586_1595del (p.Asp529fs)
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.1586_1595del (p.Asp529fs)
Variation ID: 2571620 Accession: VCV002571620.1
- Type and length
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Deletion, 10 bp
- Location
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Cytogenetic: 10p11.22 10: 31520916-31520925 (GRCh38) [ NCBI UCSC ] 10: 31809844-31809853 (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 Jul 17, 2023 Jul 16, 2023 Apr 1, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001174096.2:c.1586_1595del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001167567.1:p.Asp529fs frameshift NM_001128128.3:c.1535_1544del NP_001121600.1:p.Asp512fs frameshift NM_001174093.2:c.1523_1532del NP_001167564.1:p.Asp508fs frameshift NM_001174094.2:c.1532_1541del NP_001167565.1:p.Asp511fs frameshift NM_001174095.2:c.1382_1391del NP_001167566.1:p.Asp461fs frameshift NM_001323638.2:c.929_938del NP_001310567.1:p.Asp310fs frameshift NM_001323641.2:c.929_938del NP_001310570.1:p.Asp310fs frameshift NM_001323642.2:c.929_938del NP_001310571.1:p.Asp310fs frameshift NM_001323643.2:c.929_938del NP_001310572.1:p.Asp310fs frameshift NM_001323644.2:c.929_938del NP_001310573.1:p.Asp310fs frameshift NM_001323645.2:c.929_938del NP_001310574.1:p.Asp310fs frameshift NM_001323646.2:c.929_938del NP_001310575.1:p.Asp310fs frameshift NM_001323647.2:c.929_938del NP_001310576.1:p.Asp310fs frameshift NM_001323648.2:c.929_938del NP_001310577.1:p.Asp310fs frameshift NM_001323649.2:c.929_938del NP_001310578.1:p.Asp310fs frameshift NM_001323650.2:c.929_938del NP_001310579.1:p.Asp310fs frameshift NM_001323651.2:c.929_938del NP_001310580.1:p.Asp310fs frameshift NM_001323652.2:c.929_938del NP_001310581.1:p.Asp310fs frameshift NM_001323653.2:c.929_938del NP_001310582.1:p.Asp310fs frameshift NM_001323654.2:c.929_938del NP_001310583.1:p.Asp310fs frameshift NM_001323655.2:c.929_938del NP_001310584.1:p.Asp310fs frameshift NM_001323656.2:c.929_938del NP_001310585.1:p.Asp310fs frameshift NM_001323657.2:c.929_938del NP_001310586.1:p.Asp310fs frameshift NM_001323658.2:c.929_938del NP_001310587.1:p.Asp310fs frameshift NM_001323659.2:c.929_938del NP_001310588.1:p.Asp310fs frameshift NM_001323660.2:c.929_938del NP_001310589.1:p.Asp310fs frameshift NM_001323661.2:c.929_938del NP_001310590.1:p.Asp310fs frameshift NM_001323662.2:c.929_938del NP_001310591.1:p.Asp310fs frameshift NM_001323663.2:c.929_938del NP_001310592.1:p.Asp310fs frameshift NM_001323664.2:c.929_938del NP_001310593.1:p.Asp310fs frameshift NM_001323665.2:c.929_938del NP_001310594.1:p.Asp310fs frameshift NM_001323666.2:c.929_938del NP_001310595.1:p.Asp310fs frameshift NM_001323671.2:c.929_938del NP_001310600.1:p.Asp310fs frameshift NM_001323672.2:c.929_938del NP_001310601.1:p.Asp310fs frameshift NM_001323673.2:c.929_938del NP_001310602.1:p.Asp310fs frameshift NM_001323674.2:c.1361_1370del NP_001310603.1:p.Asp454fs frameshift NM_001323675.2:c.1319_1328del NP_001310604.1:p.Asp440fs frameshift NM_001323676.2:c.1544_1553del NP_001310605.1:p.Asp515fs frameshift NM_001323677.2:c.1541_1550del NP_001310606.1:p.Asp514fs frameshift NM_001323678.2:c.1310_1319del NP_001310607.1:p.Asp437fs frameshift NM_030751.6:c.1583_1592del NP_110378.3:p.Asp528fs frameshift NR_024285.1:n.2296_2305delATAGCACTTG NR_024286.1:n.1841_1850delATAGCACTTG NR_024287.1:n.2178_2187delATAGCACTTG NC_000010.11:g.31520918_31520927del NC_000010.10:g.31809846_31809855del NG_017048.1:g.206746_206755del NG_017048.2:g.207503_207512del - Protein change
- D310fs, D437fs, D440fs, D454fs, D461fs, D508fs, D511fs, D512fs, D514fs, D515fs, D528fs, D529fs
- Other names
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- Canonical SPDI
- NC_000010.11:31520915:TGATAGCACTTG:TG
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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 | ||
|---|---|---|---|---|---|---|
| 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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| ZEB1 | - | - |
GRCh38 GRCh37 |
130 | 148 | |
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. |
|---|---|---|---|---|
| Pathogenic (1) |
criteria provided, single submitter
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Apr 1, 2023 | RCV003313330.1 |
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
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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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Pathogenic
(Apr 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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Corneal dystrophy
Affected status: yes
Allele origin:
germline
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Hadassah Hebrew University Medical Center
Accession: SCV004012090.1
First in ClinVar: Jul 16, 2023 Last updated: Jul 16, 2023 |
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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
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 Jul 22, 2023
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.