rs1667354
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000444991.6(ZNF568):āc.479A>Gā(p.Asp160Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.539 in 1,534,716 control chromosomes in the GnomAD database, including 225,748 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.479A>G | p.Asp160Gly | missense_variant | 8/10 | ||
ZNF568 | NM_001204839.2 | c.287A>G | p.Asp96Gly | missense_variant | 7/9 | ||
ZNF568 | XM_017026772.2 | c.479A>G | p.Asp160Gly | missense_variant | 8/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF568 | ENST00000444991.6 | c.479A>G | p.Asp160Gly | missense_variant | 8/10 | 1 | |||
ZNF568 | ENST00000591887.1 | n.197A>G | non_coding_transcript_exon_variant | 1/2 | 1 | ||||
ZNF568 | ENST00000455427.7 | c.287A>G | p.Asp96Gly | missense_variant | 7/9 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.559 AC: 84876AN: 151902Hom.: 24471 Cov.: 32
GnomAD3 exomes AF: 0.510 AC: 70413AN: 138030Hom.: 18553 AF XY: 0.514 AC XY: 38348AN XY: 74658
GnomAD4 exome AF: 0.537 AC: 741934AN: 1382696Hom.: 201239 Cov.: 40 AF XY: 0.537 AC XY: 366201AN XY: 682232
GnomAD4 genome ? AF: 0.559 AC: 84975AN: 152020Hom.: 24509 Cov.: 32 AF XY: 0.558 AC XY: 41464AN XY: 74310
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at