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NM_001174096.2(ZEB1):c.2919_2920del (p.Gly974fs) AND Posterior polymorphous corneal dystrophy 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2005
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000013466.26

Allele description [Variation Report for NM_001174096.2(ZEB1):c.2919_2920del (p.Gly974fs)]

NM_001174096.2(ZEB1):c.2919_2920del (p.Gly974fs)

Gene:
ZEB1:zinc finger E-box binding homeobox 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10p11.22
Genomic location:
Preferred name:
NM_001174096.2(ZEB1):c.2919_2920del (p.Gly974fs)
HGVS:
  • NC_000010.11:g.31526805_31526806del
  • NG_017048.1:g.212633_212634del
  • NM_001128128.3:c.2868_2869del
  • NM_001174093.2:c.2856_2857del
  • NM_001174094.2:c.2865_2866del
  • NM_001174095.2:c.2715_2716del
  • NM_001174096.2:c.2919_2920delMANE SELECT
  • NM_001323638.2:c.2262_2263del
  • NM_001323641.2:c.2262_2263del
  • NM_001323642.2:c.2262_2263del
  • NM_001323643.2:c.2262_2263del
  • NM_001323644.2:c.2262_2263del
  • NM_001323645.2:c.2262_2263del
  • NM_001323646.2:c.2262_2263del
  • NM_001323647.2:c.2262_2263del
  • NM_001323648.2:c.2262_2263del
  • NM_001323649.2:c.2262_2263del
  • NM_001323650.2:c.2262_2263del
  • NM_001323651.2:c.2262_2263del
  • NM_001323652.2:c.2262_2263del
  • NM_001323653.2:c.2262_2263del
  • NM_001323654.2:c.2262_2263del
  • NM_001323655.2:c.2262_2263del
  • NM_001323656.2:c.2262_2263del
  • NM_001323657.2:c.2262_2263del
  • NM_001323658.2:c.2262_2263del
  • NM_001323659.2:c.2262_2263del
  • NM_001323660.2:c.2262_2263del
  • NM_001323661.2:c.2262_2263del
  • NM_001323662.2:c.2262_2263del
  • NM_001323663.2:c.2262_2263del
  • NM_001323664.2:c.2262_2263del
  • NM_001323665.2:c.2262_2263del
  • NM_001323666.2:c.2262_2263del
  • NM_001323671.2:c.2262_2263del
  • NM_001323672.2:c.2262_2263del
  • NM_001323673.2:c.2262_2263del
  • NM_001323674.2:c.2694_2695del
  • NM_001323675.2:c.2652_2653del
  • NM_001323676.2:c.2877_2878del
  • NM_001323677.2:c.2874_2875del
  • NM_001323678.2:c.2643_2644del
  • NM_030751.6:c.2916_2917del
  • NP_001121600.1:p.Gly957fs
  • NP_001167564.1:p.Gly953fs
  • NP_001167565.1:p.Gly956fs
  • NP_001167566.1:p.Gly906fs
  • NP_001167567.1:p.Gly974fs
  • NP_001310567.1:p.Gly755fs
  • NP_001310570.1:p.Gly755fs
  • NP_001310571.1:p.Gly755fs
  • NP_001310572.1:p.Gly755fs
  • NP_001310573.1:p.Gly755fs
  • NP_001310574.1:p.Gly755fs
  • NP_001310575.1:p.Gly755fs
  • NP_001310576.1:p.Gly755fs
  • NP_001310577.1:p.Gly755fs
  • NP_001310578.1:p.Gly755fs
  • NP_001310579.1:p.Gly755fs
  • NP_001310580.1:p.Gly755fs
  • NP_001310581.1:p.Gly755fs
  • NP_001310582.1:p.Gly755fs
  • NP_001310583.1:p.Gly755fs
  • NP_001310584.1:p.Gly755fs
  • NP_001310585.1:p.Gly755fs
  • NP_001310586.1:p.Gly755fs
  • NP_001310587.1:p.Gly755fs
  • NP_001310588.1:p.Gly755fs
  • NP_001310589.1:p.Gly755fs
  • NP_001310590.1:p.Gly755fs
  • NP_001310591.1:p.Gly755fs
  • NP_001310592.1:p.Gly755fs
  • NP_001310593.1:p.Gly755fs
  • NP_001310594.1:p.Gly755fs
  • NP_001310595.1:p.Gly755fs
  • NP_001310600.1:p.Gly755fs
  • NP_001310601.1:p.Gly755fs
  • NP_001310602.1:p.Gly755fs
  • NP_001310603.1:p.Gly899fs
  • NP_001310604.1:p.Gly885fs
  • NP_001310605.1:p.Gly960fs
  • NP_001310606.1:p.Gly959fs
  • NP_001310607.1:p.Gly882fs
  • NP_110378.3:p.Gly973fs
  • NC_000010.10:g.31815733_31815734del
  • NM_030751.5:c.2916_2917delTG
Note:
ClinGen staff contributed the HGVS expression for this variant.
Protein change:
G755fs
Links:
OMIM: 189909.0001; dbSNP: rs1592143384
NCBI 1000 Genomes Browser:
rs1592143384
Molecular consequence:
  • NM_001128128.3:c.2868_2869del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001174093.2:c.2856_2857del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001174094.2:c.2865_2866del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001174095.2:c.2715_2716del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001174096.2:c.2919_2920del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323638.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323641.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323642.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323643.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323644.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323645.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323646.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323647.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323648.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323649.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323650.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323651.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323652.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323653.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323654.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323655.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323656.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323657.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323658.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323659.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323660.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323661.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323662.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323663.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323664.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323665.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323666.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323671.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323672.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323673.2:c.2262_2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323674.2:c.2694_2695del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323675.2:c.2652_2653del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323676.2:c.2877_2878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323677.2:c.2874_2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323678.2:c.2643_2644del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_030751.6:c.2916_2917del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Posterior polymorphous corneal dystrophy 3 (PPCD3)
Identifiers:
MONDO: MONDO:0012200; MedGen: C1836724; Orphanet: 98973; OMIM: 609141

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000033713OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 2005) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy.

Moroi SE, Gokhale PA, Schteingart MT, Sugar A, Downs CA, Shimizu S, Krafchak C, Fuse N, Elner SG, Elner VM, Flint A, Epstein MP, Boehnke M, Richards JE.

Am J Ophthalmol. 2003 Apr;135(4):461-70.

PubMed [citation]
PMID:
12654361

Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.

Krafchak CM, Pawar H, Moroi SE, Sugar A, Lichter PR, Mackey DA, Mian S, Nairus T, Elner V, Schteingart MT, Downs CA, Kijek TG, Johnson JM, Trager EH, Rozsa FW, Mandal MN, Epstein MP, Vollrath D, Ayyagari R, Boehnke M, Richards JE.

Am J Hum Genet. 2005 Nov;77(5):694-708. Epub 2005 Sep 14.

PubMed [citation]
PMID:
16252232
PMCID:
PMC1271382

Details of each submission

From OMIM, SCV000033713.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In the original family (UM:139) with posterior polymorphous corneal dystrophy-3 (PPCD3; 609141) described by Moroi et al. (2003), Krafchak et al. (2005) detected a heterozygous 2-bp deletion in the last exon of the TCF8 gene, c.2916_2917delTG (c.2916_2917delTG, NM_030751). This frameshift mutation was predicted to alter the amino acids downstream of the deletion and maintain an open reading frame for 13 codons before a termination signal, resulting in elimination of most of the last zinc finger cluster and the acidic activation domain. The mutation was present in all 13 affected family members who were screened.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 18, 2023