rs16971886
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000444991.6(ZNF568):c.1382G>A(p.Arg461His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.356 in 1,566,038 control chromosomes in the GnomAD database, including 101,825 homozygotes. In-silico tool predicts a benign outcome for this variant. 8/13 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000444991.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF568 | NM_001204838.2 | c.1382G>A | p.Arg461His | missense_variant | 10/10 | ||
ZNF568 | NM_001204839.2 | c.1190G>A | p.Arg397His | missense_variant | 9/9 | ||
ZNF568 | XM_017026772.2 | c.1382G>A | p.Arg461His | missense_variant | 10/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF568 | ENST00000444991.6 | c.1382G>A | p.Arg461His | missense_variant | 10/10 | 1 | |||
ZNF568 | ENST00000591887.1 | n.1551G>A | non_coding_transcript_exon_variant | 2/2 | 1 | ||||
ZNF568 | ENST00000455427.7 | c.1190G>A | p.Arg397His | missense_variant | 9/9 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.332 AC: 50409AN: 151608Hom.: 8604 Cov.: 31
GnomAD3 exomes AF: 0.325 AC: 59579AN: 183170Hom.: 10050 AF XY: 0.327 AC XY: 32354AN XY: 98968
GnomAD4 exome AF: 0.358 AC: 506841AN: 1414314Hom.: 93206 Cov.: 66 AF XY: 0.357 AC XY: 250157AN XY: 700520
GnomAD4 genome ? AF: 0.333 AC: 50474AN: 151724Hom.: 8619 Cov.: 31 AF XY: 0.332 AC XY: 24570AN XY: 74106
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at