rs2910164
Variant summary
Our verdict is Benign. The variant received -10 ACMG points: 0P and 10B. BP4_ModerateBA1
The ENST00000517927.1(MIR3142HG):n.286C>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 0.727 in 528,390 control chromosomes in the GnomAD database, including 141,782 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
ENST00000517927.1 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Our verdict: Benign. The variant received -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MIR146A | NR_029701.1 | n.60C>G | non_coding_transcript_exon_variant | Exon 1 of 1 | ||||
MIR3142HG | NR_132748.1 | n.303C>G | non_coding_transcript_exon_variant | Exon 2 of 2 | ||||
MIR146A | unassigned_transcript_889 | n.4C>G | non_coding_transcript_exon_variant | Exon 1 of 1 | ||||
MIR146A | unassigned_transcript_888 | n.*18C>G | downstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MIR3142HG | ENST00000517927.1 | n.286C>G | non_coding_transcript_exon_variant | Exon 2 of 2 | 1 | |||||
MIR146A | ENST00000385201.1 | n.60C>G | non_coding_transcript_exon_variant | Exon 1 of 1 | 6 | |||||
MIR3142HG | ENST00000642173.1 | n.189C>G | non_coding_transcript_exon_variant | Exon 2 of 2 |
Frequencies
GnomAD3 genomes AF: 0.702 AC: 106630AN: 151942Hom.: 38071 Cov.: 31 show subpopulations
GnomAD2 exomes AF: 0.713 AC: 175623AN: 246292 AF XY: 0.719 show subpopulations
GnomAD4 exome AF: 0.737 AC: 277348AN: 376330Hom.: 103685 Cov.: 0 AF XY: 0.738 AC XY: 157630AN XY: 213566 show subpopulations
GnomAD4 genome AF: 0.702 AC: 106701AN: 152060Hom.: 38097 Cov.: 31 AF XY: 0.702 AC XY: 52221AN XY: 74344 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at