16-14315801-G-A
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000570945.2(MIR193BHG):n.293-10212G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.72 in 152,208 control chromosomes in the GnomAD database, including 40,827 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
ENST00000570945.2 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 |
---|---|---|---|---|---|---|---|---|---|---|
MIR193BHG | ENST00000570945.2 | n.293-10212G>A | intron_variant | Intron 1 of 1 | 3 | |||||
MIR193BHG | ENST00000634265.3 | n.419-10212G>A | intron_variant | Intron 1 of 1 | 5 | |||||
MIR193BHG | ENST00000641175.1 | n.122-10212G>A | intron_variant | Intron 1 of 1 |
Frequencies
GnomAD3 genomes AF: 0.720 AC: 109508AN: 152090Hom.: 40768 Cov.: 33 show subpopulations
GnomAD4 genome AF: 0.720 AC: 109629AN: 152208Hom.: 40827 Cov.: 33 AF XY: 0.720 AC XY: 53557AN XY: 74396 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at