rs3745770
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The ENST00000444991.6(ZNF568):c.*64C>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 31)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
ZNF568
ENST00000444991.6 3_prime_UTR
ENST00000444991.6 3_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.96
Genes affected
ZNF568 (HGNC:25392): (zinc finger protein 568) Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in embryonic placenta morphogenesis and negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.74).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF568 | NM_001204838.2 | c.*64C>A | 3_prime_UTR_variant | 10/10 | |||
ZNF568 | NM_001204839.2 | c.*64C>A | 3_prime_UTR_variant | 9/9 | |||
ZNF568 | XM_017026772.2 | c.*64C>A | 3_prime_UTR_variant | 10/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF568 | ENST00000444991.6 | c.*64C>A | 3_prime_UTR_variant | 10/10 | 1 | ||||
ZNF568 | ENST00000591887.1 | n.2141C>A | non_coding_transcript_exon_variant | 2/2 | 1 | ||||
ZNF568 | ENST00000433993.6 | c.*64C>A | 3_prime_UTR_variant | 5/5 | 4 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD3 genomes
?
Cov.:
31
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1080136Hom.: 0 Cov.: 15 AF XY: 0.00 AC XY: 0AN XY: 545756
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
AC:
0
AN:
1080136
Hom.:
Cov.:
15
AF XY:
AC XY:
0
AN XY:
545756
Gnomad4 AFR exome
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GnomAD4 genome ? Cov.: 31
GnomAD4 genome
?
Cov.:
31
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.