15-79209839-T-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NR_029705.1(MIR184):n.52T>C 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 0.0000966 in 517,498 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars).
Frequency
Consequence
NR_029705.1 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MIR184 | ENST00000384962.1 | n.52T>C | non_coding_transcript_exon_variant | Exon 1 of 1 | 6 | |||||
ANKRD34C-AS1 | ENST00000559225.2 | n.436+3348A>G | intron_variant | Intron 2 of 2 | 4 | |||||
ANKRD34C-AS1 | ENST00000560872.1 | n.178-17737A>G | intron_variant | Intron 1 of 1 | 3 |
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 152196Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000679 AC: 17AN: 250414Hom.: 1 AF XY: 0.0000664 AC XY: 9AN XY: 135562
GnomAD4 exome AF: 0.0000849 AC: 31AN: 365302Hom.: 0 Cov.: 0 AF XY: 0.0000575 AC XY: 12AN XY: 208546
GnomAD4 genome AF: 0.000125 AC: 19AN: 152196Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74358
ClinVar
Submissions by phenotype
MIR184-related disorder Uncertain:1
The MIR184 n.52T>C is a noncoding alteration. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of European (Non-Finnish) descent in gnomAD, including a homozygous individual. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
Developmental cataract Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at