chr11-30228630-C-T
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000527819.2(ARL14EP-DT):n.471-71777G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.492 in 151,928 control chromosomes in the GnomAD database, including 18,633 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
ENST00000527819.2 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 |
---|---|---|---|---|---|---|---|---|---|---|
ARL14EP-DT | ENST00000527819.2 | n.471-71777G>A | intron_variant | Intron 3 of 5 | 3 | |||||
ARL14EP-DT | ENST00000662729.1 | n.293-71777G>A | intron_variant | Intron 3 of 4 | ||||||
ARL14EP-DT | ENST00000726808.1 | n.517-71777G>A | intron_variant | Intron 3 of 4 | ||||||
ARL14EP-DT | ENST00000726809.1 | n.375-67582G>A | intron_variant | Intron 3 of 3 |
Frequencies
GnomAD3 genomes AF: 0.493 AC: 74768AN: 151810Hom.: 18621 Cov.: 31 show subpopulations
GnomAD4 genome AF: 0.492 AC: 74817AN: 151928Hom.: 18633 Cov.: 31 AF XY: 0.499 AC XY: 37076AN XY: 74238 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at