chr17-45135596-G-T
Variant summary
Our verdict is Benign. The variant received -7 ACMG points: 1P and 8B. PP3BA1
The ENST00000591859.5(ACBD4):c.-153+4G>T variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.461 in 154,056 control chromosomes in the GnomAD database, including 16,733 homozygotes. In-silico tool predicts a benign outcome for this variant. 2/2 splice prediction tools predicting alterations to normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000591859.5 splice_region, intron
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ACBD4 | NM_001135705.3 | c.-395G>T | upstream_gene_variant | ENST00000321854.13 | NP_001129177.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ACBD4 | ENST00000591859.5 | c.-153+4G>T | splice_region_variant, intron_variant | Intron 2 of 11 | 1 | ENSP00000465610.1 | ||||
ACBD4 | ENST00000321854.13 | c.-395G>T | upstream_gene_variant | 1 | NM_001135705.3 | ENSP00000314440.8 |
Frequencies
GnomAD3 genomes AF: 0.461 AC: 70099AN: 152038Hom.: 16491 Cov.: 34 show subpopulations
GnomAD4 exome AF: 0.442 AC: 839AN: 1900Hom.: 234 Cov.: 0 AF XY: 0.474 AC XY: 539AN XY: 1138 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.461 AC: 70130AN: 152156Hom.: 16499 Cov.: 34 AF XY: 0.457 AC XY: 33994AN XY: 74388 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at