rs619200
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000376950.4(ZNF81):c.277+30263G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000018 in 111,337 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. 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
ENST00000376950.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF81 | ENST00000376950.4 | c.277+30263G>A | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000180 AC: 2AN: 111337Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33635
GnomAD4 genome ? AF: 0.0000180 AC: 2AN: 111337Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33635
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at