chr19-52405974-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_032423.3(ZNF528):c.83C>T(p.Ala28Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0027 in 1,612,022 control chromosomes in the GnomAD database, including 6 homozygotes. 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 Likely benign (★).
Frequency
Consequence
NM_032423.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF528 | NM_032423.3 | c.83C>T | p.Ala28Val | missense_variant | Exon 5 of 7 | ENST00000360465.8 | NP_115799.2 | |
ZNF528 | XM_006723418.3 | c.83C>T | p.Ala28Val | missense_variant | Exon 4 of 8 | XP_006723481.1 | ||
ZNF528 | XM_047439511.1 | c.53C>T | p.Ala18Val | missense_variant | Exon 2 of 6 | XP_047295467.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00200 AC: 305AN: 152154Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00200 AC: 503AN: 251422Hom.: 1 AF XY: 0.00219 AC XY: 297AN XY: 135884
GnomAD4 exome AF: 0.00277 AC: 4042AN: 1459750Hom.: 6 Cov.: 30 AF XY: 0.00279 AC XY: 2024AN XY: 726146
GnomAD4 genome AF: 0.00200 AC: 305AN: 152272Hom.: 0 Cov.: 32 AF XY: 0.00180 AC XY: 134AN XY: 74456
ClinVar
Submissions by phenotype
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at