rs352162
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000624096.1(ENSG00000280003):n.60A>G variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.543 in 153,270 control chromosomes in the GnomAD database, including 22,765 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
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000624096.1 | n.60A>G | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.543 AC: 82365AN: 151674Hom.: 22549 Cov.: 30
GnomAD4 exome AF: 0.483 AC: 714AN: 1478Hom.: 195 Cov.: 0 AF XY: 0.500 AC XY: 393AN XY: 786
GnomAD4 genome ? AF: 0.543 AC: 82436AN: 151792Hom.: 22570 Cov.: 30 AF XY: 0.538 AC XY: 39888AN XY: 74162
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at