rs28383793
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The ENST00000698343.1(MIR31HG):n.103-19725T>C variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0393 in 1,520,846 control chromosomes in the GnomAD database, including 1,404 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
ENST00000698343.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IFNA1 | NM_024013.3 | upstream_gene_variant | ENST00000276927.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MIR31HG | ENST00000698343.1 | n.103-19725T>C | intron_variant, non_coding_transcript_variant | ||||||
IFNA1 | ENST00000276927.3 | upstream_gene_variant | NM_024013.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0339 AC: 5163AN: 152188Hom.: 116 Cov.: 30
GnomAD4 exome AF: 0.0399 AC: 54626AN: 1368540Hom.: 1287 Cov.: 25 AF XY: 0.0399 AC XY: 27160AN XY: 681216
GnomAD4 genome AF: 0.0339 AC: 5166AN: 152306Hom.: 117 Cov.: 30 AF XY: 0.0337 AC XY: 2511AN XY: 74470
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at