19-52563640-G-T
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000487863.5(ZNF808):n.*745G>T variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.332 in 153,258 control chromosomes in the GnomAD database, including 8,906 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000487863.5 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
Publications
Genome browser will be placed here
ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF808 | XR_002958314.2 | n.3622G>T | non_coding_transcript_exon_variant | Exon 6 of 6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF808 | ENST00000487863.5 | n.*745G>T | non_coding_transcript_exon_variant | Exon 4 of 4 | 1 | ENSP00000420522.1 | ||||
ZNF808 | ENST00000487863.5 | n.*745G>T | 3_prime_UTR_variant | Exon 4 of 4 | 1 | ENSP00000420522.1 | ||||
ZNF701 | ENST00000478039.1 | n.230-6400G>T | intron_variant | Intron 1 of 2 | 4 |
Frequencies
GnomAD3 genomes AF: 0.333 AC: 50615AN: 151964Hom.: 8871 Cov.: 33 show subpopulations
GnomAD4 exome AF: 0.212 AC: 249AN: 1174Hom.: 29 Cov.: 0 AF XY: 0.188 AC XY: 116AN XY: 618 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.333 AC: 50653AN: 152084Hom.: 8877 Cov.: 33 AF XY: 0.329 AC XY: 24435AN XY: 74338 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at