6-32791558-C-A
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000788564.1(ENSG00000302653):n.107-277C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.654 in 151,886 control chromosomes in the GnomAD database, including 32,596 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
ENST00000788564.1 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 |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000302653 | ENST00000788564.1 | n.107-277C>A | intron_variant | Intron 1 of 1 |
Frequencies
GnomAD3 genomes AF: 0.654 AC: 99250AN: 151768Hom.: 32577 Cov.: 30 show subpopulations
GnomAD4 genome AF: 0.654 AC: 99310AN: 151886Hom.: 32596 Cov.: 30 AF XY: 0.658 AC XY: 48859AN XY: 74228 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at