rs817321
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_020713.3(ZNF512B):c.*907G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0269 in 152,686 control chromosomes in the GnomAD database, including 100 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 0.027 ( 100 hom., cov: 33)
Exomes 𝑓: 0.012 ( 0 hom. )
Consequence
ZNF512B
NM_020713.3 3_prime_UTR
NM_020713.3 3_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.0810
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.82).
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0657 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF512B | NM_020713.3 | c.*907G>A | 3_prime_UTR_variant | 17/17 | ENST00000369888.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF512B | ENST00000369888.6 | c.*907G>A | 3_prime_UTR_variant | 17/17 | 1 | NM_020713.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0270 AC: 4102AN: 152144Hom.: 99 Cov.: 33
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GnomAD4 exome AF: 0.0118 AC: 5AN: 424Hom.: 0 Cov.: 0 AF XY: 0.0123 AC XY: 4AN XY: 326
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GnomAD4 genome ? AF: 0.0270 AC: 4107AN: 152262Hom.: 100 Cov.: 33 AF XY: 0.0255 AC XY: 1900AN XY: 74438
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at