18-32543605-G-A
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000646805.1(ENSG00000285095):n.360-17030G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.759 in 152,114 control chromosomes in the GnomAD database, including 44,826 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
ENST00000646805.1 intron
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000285095 | ENST00000646805.1 | n.360-17030G>A | intron_variant | Intron 2 of 6 | ||||||
ENSG00000285095 | ENST00000654761.1 | n.184+25638G>A | intron_variant | Intron 2 of 2 | ||||||
ENSG00000285095 | ENST00000716676.1 | n.275+25638G>A | intron_variant | Intron 3 of 5 |
Frequencies
GnomAD3 genomes AF: 0.759 AC: 115380AN: 151996Hom.: 44809 Cov.: 33 show subpopulations
GnomAD4 genome AF: 0.759 AC: 115435AN: 152114Hom.: 44826 Cov.: 33 AF XY: 0.762 AC XY: 56632AN XY: 74354 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at