rs935706
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000444991.6(ZNF568):c.1039G>A(p.Ala347Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.526 in 1,536,624 control chromosomes in the GnomAD database, including 214,964 homozygotes. In-silico tool predicts a benign outcome for this variant. 10/13 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.1039G>A | p.Ala347Thr | missense_variant | 10/10 | ||
ZNF568 | NM_001204839.2 | c.847G>A | p.Ala283Thr | missense_variant | 9/9 | ||
ZNF568 | XM_017026772.2 | c.1039G>A | p.Ala347Thr | missense_variant | 10/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF568 | ENST00000444991.6 | c.1039G>A | p.Ala347Thr | missense_variant | 10/10 | 1 | |||
ZNF568 | ENST00000591887.1 | n.1208G>A | non_coding_transcript_exon_variant | 2/2 | 1 | ||||
ZNF568 | ENST00000455427.7 | c.847G>A | p.Ala283Thr | missense_variant | 9/9 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.535 AC: 81250AN: 151888Hom.: 22251 Cov.: 32
GnomAD3 exomes AF: 0.498 AC: 70527AN: 141688Hom.: 18062 AF XY: 0.502 AC XY: 38273AN XY: 76302
GnomAD4 exome AF: 0.525 AC: 726946AN: 1384618Hom.: 192679 Cov.: 51 AF XY: 0.525 AC XY: 358929AN XY: 683322
GnomAD4 genome ? AF: 0.535 AC: 81345AN: 152006Hom.: 22285 Cov.: 32 AF XY: 0.534 AC XY: 39685AN XY: 74272
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at