rs72631833
Variant summary
Our verdict is Benign. The variant received -10 ACMG points: 0P and 10B. BP4_ModerateBS1BS2
The ENST00000384958.1(MIR183):n.51G>T variant causes a non coding transcript exon change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00199 in 529,310 control chromosomes in the GnomAD database, including 9 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
ENST00000384958.1 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
Publications
- autosomal dominant nonsyndromic hearing loss 50Inheritance: AD Classification: STRONG, MODERATE Submitted by: PanelApp Australia, G2P, Labcorp Genetics (formerly Invitae)
- nonsyndromic genetic hearing lossInheritance: AD Classification: MODERATE Submitted by: ClinGen
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ACMG classification
Our verdict: Benign. The variant received -10 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MIR183 | ENST00000384958.1 | n.51G>T | non_coding_transcript_exon_variant | Exon 1 of 1 | 6 | |||||
ENSG00000286380 | ENST00000710872.1 | n.431+4826G>T | intron_variant | Intron 1 of 1 | ||||||
ENSG00000304993 | ENST00000807590.1 | n.174+80C>A | intron_variant | Intron 1 of 1 | ||||||
MIR96 | ENST00000362288.1 | n.-195G>T | upstream_gene_variant | 6 |
Frequencies
GnomAD3 genomes AF: 0.00512 AC: 779AN: 152160Hom.: 8 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.00147 AC: 362AN: 245768 AF XY: 0.00109 show subpopulations
GnomAD4 exome AF: 0.000713 AC: 269AN: 377032Hom.: 1 Cov.: 0 AF XY: 0.000580 AC XY: 124AN XY: 213952 show subpopulations
GnomAD4 genome AF: 0.00514 AC: 782AN: 152278Hom.: 8 Cov.: 33 AF XY: 0.00482 AC XY: 359AN XY: 74458 show subpopulations
ClinVar
Submissions by phenotype
not specified Benign:1
51G>T in miR183: This variant has been identified in 0.5% individuals from the 1 000Genomes project (10/2000; rs72631833). It is also located in the loop region of the miRNA and is therefore unlikely to affect target binding specificity that is determined by the seed region. In summary, this variant is likely benign. -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at