rs12869870
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000267294.5(ZIC5):c.*326C>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.223 in 141,360 control chromosomes in the GnomAD database, including 3,465 homozygotes. 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: 𝑓 0.22 ( 3429 hom., cov: 24)
Exomes 𝑓: 0.21 ( 36 hom. )
Consequence
ZIC5
ENST00000267294.5 3_prime_UTR
ENST00000267294.5 3_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.553
Genes affected
ZIC5 (HGNC:20322): (Zic family member 5) This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. The encoded protein may act as a transcriptional repressor. Studies in mouse and Xenopus support a role for this gene in neural crest development. Elevated expression of this gene has been observed in various human cancers and may contribute to cancer progression. This gene is closely linked to a related family member on chromosome 13. [provided by RefSeq, Mar 2017]
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.83).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.226 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZIC5 | NM_033132.5 | c.*326C>T | 3_prime_UTR_variant | 2/2 | ENST00000267294.5 | NP_149123.3 | ||
ZIC5 | NR_146224.1 | n.2713C>T | non_coding_transcript_exon_variant | 3/3 | ||||
ZIC5 | NR_146225.2 | n.982C>T | non_coding_transcript_exon_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZIC5 | ENST00000267294.5 | c.*326C>T | 3_prime_UTR_variant | 2/2 | 1 | NM_033132.5 | ENSP00000267294 | P1 |
Frequencies
GnomAD3 genomes AF: 0.223 AC: 31119AN: 139784Hom.: 3427 Cov.: 24
GnomAD3 genomes
AF:
AC:
31119
AN:
139784
Hom.:
Cov.:
24
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD4 exome AF: 0.213 AC: 336AN: 1576Hom.: 36 Cov.: 0 AF XY: 0.215 AC XY: 199AN XY: 924
GnomAD4 exome
AF:
AC:
336
AN:
1576
Hom.:
Cov.:
0
AF XY:
AC XY:
199
AN XY:
924
Gnomad4 AFR exome
AF:
Gnomad4 AMR exome
AF:
Gnomad4 ASJ exome
AF:
Gnomad4 EAS exome
AF:
Gnomad4 SAS exome
AF:
Gnomad4 FIN exome
AF:
Gnomad4 NFE exome
AF:
Gnomad4 OTH exome
AF:
GnomAD4 genome AF: 0.223 AC: 31119AN: 139784Hom.: 3429 Cov.: 24 AF XY: 0.223 AC XY: 15041AN XY: 67464
GnomAD4 genome
AF:
AC:
31119
AN:
139784
Hom.:
Cov.:
24
AF XY:
AC XY:
15041
AN XY:
67464
Gnomad4 AFR
AF:
Gnomad4 AMR
AF:
Gnomad4 ASJ
AF:
Gnomad4 EAS
AF:
Gnomad4 SAS
AF:
Gnomad4 FIN
AF:
Gnomad4 NFE
AF:
Gnomad4 OTH
AF:
Alfa
AF:
Hom.:
Bravo
AF:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at