VCV001691711.2 - ClinVar

NM_001174096.2(ZEB1):c.1093dup (p.Ile365fs)

Germline

Classification

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.

(2)

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.

Pathogenic/Likely pathogenic

criteria provided, single submitter

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_001174096.2(ZEB1):c.1093dup (p.Ile365fs)

Variation ID: 1691711 Accession: VCV001691711.2

Type and length

Duplication, 1 bp

Location

Cytogenetic: 10p11.22 10: 31520423-31520424 (GRCh38) [ NCBI UCSC ] 10: 31809351-31809352 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	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 3, 2022	Jul 16, 2023	Apr 1, 2023

HGVS

Nucleotide	Protein	Molecular consequence
NM_001174096.2:c.1093dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_001167567.1:p.Ile365fs	frameshift
NM_001128128.3:c.1042dup	NP_001121600.1:p.Ile348fs	frameshift
NM_001174093.2:c.1030dup	NP_001167564.1:p.Ile344fs	frameshift
NM_001174094.2:c.1039dup	NP_001167565.1:p.Ile347fs	frameshift
NM_001174095.2:c.889dup	NP_001167566.1:p.Ile297fs	frameshift
NM_001323638.2:c.436dup	NP_001310567.1:p.Ile146fs	frameshift
NM_001323641.2:c.436dup	NP_001310570.1:p.Ile146fs	frameshift
NM_001323642.2:c.436dup	NP_001310571.1:p.Ile146fs	frameshift
NM_001323643.2:c.436dup	NP_001310572.1:p.Ile146fs	frameshift
NM_001323644.2:c.436dup	NP_001310573.1:p.Ile146fs	frameshift
NM_001323645.2:c.436dup	NP_001310574.1:p.Ile146fs	frameshift
NM_001323646.2:c.436dup	NP_001310575.1:p.Ile146fs	frameshift
NM_001323647.2:c.436dup	NP_001310576.1:p.Ile146fs	frameshift
NM_001323648.2:c.436dup	NP_001310577.1:p.Ile146fs	frameshift
NM_001323649.2:c.436dup	NP_001310578.1:p.Ile146fs	frameshift
NM_001323650.2:c.436dup	NP_001310579.1:p.Ile146fs	frameshift
NM_001323651.2:c.436dup	NP_001310580.1:p.Ile146fs	frameshift
NM_001323652.2:c.436dup	NP_001310581.1:p.Ile146fs	frameshift
NM_001323653.2:c.436dup	NP_001310582.1:p.Ile146fs	frameshift
NM_001323654.2:c.436dup	NP_001310583.1:p.Ile146fs	frameshift
NM_001323655.2:c.436dup	NP_001310584.1:p.Ile146fs	frameshift
NM_001323656.2:c.436dup	NP_001310585.1:p.Ile146fs	frameshift
NM_001323657.2:c.436dup	NP_001310586.1:p.Ile146fs	frameshift
NM_001323658.2:c.436dup	NP_001310587.1:p.Ile146fs	frameshift
NM_001323659.2:c.436dup	NP_001310588.1:p.Ile146fs	frameshift
NM_001323660.2:c.436dup	NP_001310589.1:p.Ile146fs	frameshift
NM_001323661.2:c.436dup	NP_001310590.1:p.Ile146fs	frameshift
NM_001323662.2:c.436dup	NP_001310591.1:p.Ile146fs	frameshift
NM_001323663.2:c.436dup	NP_001310592.1:p.Ile146fs	frameshift
NM_001323664.2:c.436dup	NP_001310593.1:p.Ile146fs	frameshift
NM_001323665.2:c.436dup	NP_001310594.1:p.Ile146fs	frameshift
NM_001323666.2:c.436dup	NP_001310595.1:p.Ile146fs	frameshift
NM_001323671.2:c.436dup	NP_001310600.1:p.Ile146fs	frameshift
NM_001323672.2:c.436dup	NP_001310601.1:p.Ile146fs	frameshift
NM_001323673.2:c.436dup	NP_001310602.1:p.Ile146fs	frameshift
NM_001323674.2:c.868dup	NP_001310603.1:p.Ile290fs	frameshift
NM_001323675.2:c.826dup	NP_001310604.1:p.Ile276fs	frameshift
NM_001323676.2:c.1051dup	NP_001310605.1:p.Ile351fs	frameshift
NM_001323677.2:c.1048dup	NP_001310606.1:p.Ile350fs	frameshift
NM_001323678.2:c.817dup	NP_001310607.1:p.Ile273fs	frameshift
NM_030751.6:c.1090dup	NP_110378.3:p.Ile364fs	frameshift
NC_000010.11:g.31520425dup
NC_000010.10:g.31809353dup
NG_017048.1:g.206253dup

... more HGVS ... less HGVS

Protein change

I146fs, I273fs, I276fs, I290fs, I297fs, I344fs, I347fs, I348fs, I350fs, I351fs, I364fs, I365fs

Other names

Canonical SPDI

NC_000010.11:31520423:AA:AAA

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The 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.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

VarSome

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
Gene	OMIM	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.
ZEB1		-	-	GRCh38 GRCh37	130	148

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.
Corneal dystrophy, Fuchs endothelial, 6	Likely pathogenic (1)	criteria provided, single submitter	Apr 17, 2022	RCV002463373.1
Corneal dystrophy	Pathogenic (1)	criteria provided, single submitter	Apr 1, 2023	RCV003313267.1

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.
Likely pathogenic (Apr 17, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Corneal dystrophy, Fuchs endothelial, 6 Affected status: yes Allele origin: germline	Hadassah Hebrew University Medical Center Accession: SCV002526437.1 First in ClinVar: Dec 03, 2022 Last updated: Dec 03, 2022
Pathogenic (Apr 01, 2023)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Corneal dystrophy Affected status: yes Allele origin: germline	Hadassah Hebrew University Medical Center Accession: SCV004012091.1 First in ClinVar: Jul 16, 2023 Last updated: Jul 16, 2023

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

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 ...

Record last updated Jul 22, 2023

ClinVar Genomic variation as it relates to human health

NM_001174096.2(ZEB1):c.1093dup (p.Ile365fs)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...