2-144520469-AC-ACCCCCCC
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The ENST00000637267.2(ZEB2):c.-340+81_-340+86dupGGGGGG variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000020 ( 0 hom., cov: 0)
Consequence
ZEB2
ENST00000637267.2 intron
ENST00000637267.2 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.630
Genes affected
ZEB2 (HGNC:14881): (zinc finger E-box binding homeobox 2) The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jan 2010]
ZEB2-AS1 (HGNC:37149): (ZEB2 antisense RNA 1) This gene produces a spliced long non-coding RNA which is a natural antisense transcript corresponding to the 5' UTR of zinc finger E-box binding homeobox 2 (ZEB2). It is thought that this transcript may be involved in the regulation of ZEB2 expression, and may play a role in the progression of bladder cancer. [provided by RefSeq, Aug 2015]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZEB2-AS1 | NR_040248.2 | n.284+187_284+192dupCCCCCC | intron_variant | Intron 3 of 3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZEB2 | ENST00000637267.2 | c.-340+81_-340+86dupGGGGGG | intron_variant | Intron 1 of 8 | 5 | ENSP00000490293.2 | ||||
ZEB2-AS1 | ENST00000427278.8 | n.1008_1013dupCCCCCC | non_coding_transcript_exon_variant | Exon 3 of 3 | 5 | |||||
ENSG00000273537 | ENST00000621340.1 | n.17_22dupCCCCCC | non_coding_transcript_exon_variant | Exon 1 of 1 | 6 |
Frequencies
GnomAD3 genomes AF: 0.0000203 AC: 1AN: 49378Hom.: 0 Cov.: 0
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GnomAD4 genome AF: 0.0000202 AC: 1AN: 49416Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 21880
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ClinVar
Not reported inComputational scores
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.