chrX-45747602-G-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_170290.1(MIR222HG):n.22534C>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 0.383 in 111,076 control chromosomes in the GnomAD database, including 6,234 homozygotes. There are 12,712 hemizygotes in GnomAD. 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
NR_170290.1 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MIR222HG | NR_170290.1 | n.22534C>G | non_coding_transcript_exon_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MIR222HG | ENST00000602461.1 | n.490-1502C>G | intron_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.383 AC: 42557AN: 111025Hom.: 6232 Cov.: 23 AF XY: 0.381 AC XY: 12690AN XY: 33295
GnomAD4 genome AF: 0.383 AC: 42577AN: 111076Hom.: 6234 Cov.: 23 AF XY: 0.381 AC XY: 12712AN XY: 33356
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at