ClinVar Genomic variation as it relates to human health
NM_001174096.2(ZEB1):c.2846_2849del (p.Ile949fs)
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.2846_2849del (p.Ile949fs)
Variation ID: 281451 Accession: VCV000281451.4
- Type and length
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Microsatellite, 4 bp
- Location
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Cytogenetic: 10p11.22 10: 31526728-31526731 (GRCh38) [ NCBI UCSC ] 10: 31815656-31815659 (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 6, 2016 Dec 6, 2016 Aug 4, 2015 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001174096.2:c.2846_2849del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001167567.1:p.Ile949fs frameshift NM_001128128.3:c.2795_2798del NP_001121600.1:p.Ile932fs frameshift NM_001174093.2:c.2783_2786del NP_001167564.1:p.Ile928fs frameshift NM_001174094.2:c.2792_2795del NP_001167565.1:p.Ile931fs frameshift NM_001174095.2:c.2642_2645del NP_001167566.1:p.Ile881fs frameshift NM_001323638.2:c.2189_2192del NP_001310567.1:p.Ile730fs frameshift NM_001323641.2:c.2189_2192del NP_001310570.1:p.Ile730fs frameshift NM_001323642.2:c.2189_2192del NP_001310571.1:p.Ile730fs frameshift NM_001323643.2:c.2189_2192del NP_001310572.1:p.Ile730fs frameshift NM_001323644.2:c.2189_2192del NP_001310573.1:p.Ile730fs frameshift NM_001323645.2:c.2189_2192del NP_001310574.1:p.Ile730fs frameshift NM_001323646.2:c.2189_2192del NP_001310575.1:p.Ile730fs frameshift NM_001323647.2:c.2189_2192del NP_001310576.1:p.Ile730fs frameshift NM_001323648.2:c.2189_2192del NP_001310577.1:p.Ile730fs frameshift NM_001323649.2:c.2189_2192del NP_001310578.1:p.Ile730fs frameshift NM_001323650.2:c.2189_2192del NP_001310579.1:p.Ile730fs frameshift NM_001323651.2:c.2189_2192del NP_001310580.1:p.Ile730fs frameshift NM_001323652.2:c.2189_2192del NP_001310581.1:p.Ile730fs frameshift NM_001323653.2:c.2189_2192del NP_001310582.1:p.Ile730fs frameshift NM_001323654.2:c.2189_2192del NP_001310583.1:p.Ile730fs frameshift NM_001323655.2:c.2189_2192del NP_001310584.1:p.Ile730fs frameshift NM_001323656.2:c.2189_2192del NP_001310585.1:p.Ile730fs frameshift NM_001323657.2:c.2189_2192del NP_001310586.1:p.Ile730fs frameshift NM_001323658.2:c.2189_2192del NP_001310587.1:p.Ile730fs frameshift NM_001323659.2:c.2189_2192del NP_001310588.1:p.Ile730fs frameshift NM_001323660.2:c.2189_2192del NP_001310589.1:p.Ile730fs frameshift NM_001323661.2:c.2189_2192del NP_001310590.1:p.Ile730fs frameshift NM_001323662.2:c.2189_2192del NP_001310591.1:p.Ile730fs frameshift NM_001323663.2:c.2189_2192del NP_001310592.1:p.Ile730fs frameshift NM_001323664.2:c.2189_2192del NP_001310593.1:p.Ile730fs frameshift NM_001323665.2:c.2189_2192del NP_001310594.1:p.Ile730fs frameshift NM_001323666.2:c.2189_2192del NP_001310595.1:p.Ile730fs frameshift NM_001323671.2:c.2189_2192del NP_001310600.1:p.Ile730fs frameshift NM_001323672.2:c.2189_2192del NP_001310601.1:p.Ile730fs frameshift NM_001323673.2:c.2189_2192del NP_001310602.1:p.Ile730fs frameshift NM_001323674.2:c.2621_2624del NP_001310603.1:p.Ile874fs frameshift NM_001323675.2:c.2579_2582del NP_001310604.1:p.Ile860fs frameshift NM_001323676.2:c.2804_2807del NP_001310605.1:p.Ile935fs frameshift NM_001323677.2:c.2801_2804del NP_001310606.1:p.Ile934fs frameshift NM_001323678.2:c.2570_2573del NP_001310607.1:p.Ile857fs frameshift NM_030751.6:c.2843_2846del NP_110378.3:p.Ile948fs frameshift NC_000010.11:g.31526728TTGA[1] NC_000010.10:g.31815656TTGA[1] NG_017048.1:g.212556TTGA[1] - Protein change
- I730fs, I857fs, I874fs, I934fs, I948fs, I860fs, I935fs, I881fs, I931fs, I928fs, I932fs, I949fs
- Other names
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- Canonical SPDI
- NC_000010.11:31526727:TTGATTGA:TTGA
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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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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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ZEB1 | - | - |
GRCh38 GRCh37 |
101 | 119 |
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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Aug 4, 2015 | RCV000394875.4 |
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
(Aug 04, 2015)
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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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Eurofins Ntd Llc (ga)
Accession: SCV000332235.4
First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
Number of individuals with the variant: 1
Sex: mixed
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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
HelpTitle | Author | Journal | Year | Link |
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http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ZEB1 | - | - | - | - |
Text-mined citations for rs886042164 ...
HelpRecord last updated Apr 02, 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.