rs11231898
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000413053.2(MIR194-2HG):n.1843C>T 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 0.00725 in 521,136 control chromosomes in the GnomAD database, including 139 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
ENST00000413053.2 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
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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 |
---|---|---|---|---|---|---|---|---|---|---|
MIR194-2 | ENST00000384864.1 | n.76C>T | non_coding_transcript_exon_variant | Exon 1 of 1 | 6 | |||||
MIR194-2HG | ENST00000413053.2 | n.1843C>T | non_coding_transcript_exon_variant | Exon 2 of 2 | 2 | |||||
MIR194-2HG | ENST00000710929.1 | n.390+1226C>T | intron_variant | Intron 3 of 3 |
Frequencies
GnomAD3 genomes AF: 0.0187 AC: 2838AN: 152014Hom.: 106 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.00484 AC: 1090AN: 225156 AF XY: 0.00353 show subpopulations
GnomAD4 exome AF: 0.00254 AC: 936AN: 369004Hom.: 33 Cov.: 0 AF XY: 0.00187 AC XY: 393AN XY: 209762 show subpopulations
GnomAD4 genome AF: 0.0187 AC: 2844AN: 152132Hom.: 106 Cov.: 32 AF XY: 0.0176 AC XY: 1311AN XY: 74364 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at