ENST00000583163.2:n.335+28496G>A
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000583163.2(ENSG00000266602):n.335+28496G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.713 in 151,782 control chromosomes in the GnomAD database, including 39,956 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
ENST00000583163.2 intron
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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000266602 | ENST00000583163.2 | n.335+28496G>A | intron_variant | Intron 3 of 4 | 2 | |||||
ENSG00000266602 | ENST00000652957.2 | n.275+28496G>A | intron_variant | Intron 2 of 2 | ||||||
ENSG00000266602 | ENST00000653006.1 | n.311+28496G>A | intron_variant | Intron 3 of 4 |
Frequencies
GnomAD3 genomes AF: 0.713 AC: 108094AN: 151666Hom.: 39934 Cov.: 31 show subpopulations
GnomAD4 genome AF: 0.713 AC: 108155AN: 151782Hom.: 39956 Cov.: 31 AF XY: 0.723 AC XY: 53649AN XY: 74174 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at