ENST00000654016.1:n.43+12576A>C
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000654016.1(ENSG00000260271):n.43+12576A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.341 in 152,044 control chromosomes in the GnomAD database, including 10,016 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
ENST00000654016.1 intron
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000260271 | ENST00000654016.1 | n.43+12576A>C | intron_variant | Intron 1 of 7 | ||||||
ENSG00000260271 | ENST00000663503.1 | n.85+12576A>C | intron_variant | Intron 1 of 4 | ||||||
ENSG00000260271 | ENST00000667364.1 | n.30+14049A>C | intron_variant | Intron 1 of 4 |
Frequencies
GnomAD3 genomes AF: 0.341 AC: 51842AN: 151926Hom.: 10011 Cov.: 32 show subpopulations
GnomAD4 genome AF: 0.341 AC: 51854AN: 152044Hom.: 10016 Cov.: 32 AF XY: 0.337 AC XY: 25072AN XY: 74320 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at