19-52405947-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032423.3(ZNF528):āc.56A>Gā(p.Gln19Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000135 in 1,611,668 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_032423.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF528 | NM_032423.3 | c.56A>G | p.Gln19Arg | missense_variant | 5/7 | ENST00000360465.8 | |
ZNF528 | XM_006723418.3 | c.56A>G | p.Gln19Arg | missense_variant | 4/8 | ||
ZNF528 | XM_047439511.1 | c.26A>G | p.Gln9Arg | missense_variant | 2/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF528 | ENST00000360465.8 | c.56A>G | p.Gln19Arg | missense_variant | 5/7 | 1 | NM_032423.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152134Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000115 AC: 29AN: 251478Hom.: 0 AF XY: 0.000125 AC XY: 17AN XY: 135914
GnomAD4 exome AF: 0.000140 AC: 205AN: 1459534Hom.: 0 Cov.: 30 AF XY: 0.000149 AC XY: 108AN XY: 726054
GnomAD4 genome AF: 0.0000789 AC: 12AN: 152134Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74316
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 27, 2022 | The c.56A>G (p.Q19R) alteration is located in exon 5 (coding exon 2) of the ZNF528 gene. This alteration results from a A to G substitution at nucleotide position 56, causing the glutamine (Q) at amino acid position 19 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at