rs2022896
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_148991.1(MIR3171HG):n.253+121019C>T 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 0.361 in 152,010 control chromosomes in the GnomAD database, including 11,490 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
NR_148991.1 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 |
---|---|---|---|---|---|---|---|
MIR3171HG | NR_148991.1 | n.253+121019C>T | intron_variant, non_coding_transcript_variant | ||||
MIR3171HG | NR_148992.1 | n.358+120914C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MIR3171HG | ENST00000555797.1 | n.348+121019C>T | intron_variant, non_coding_transcript_variant | 3 | |||||
MIR3171HG | ENST00000556890.1 | n.358+120914C>T | intron_variant, non_coding_transcript_variant | 1 | |||||
MIR3171HG | ENST00000553392.5 | n.262+121019C>T | intron_variant, non_coding_transcript_variant | 3 | |||||
MIR3171HG | ENST00000554904.5 | n.253+121019C>T | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.360 AC: 54724AN: 151888Hom.: 11463 Cov.: 32
GnomAD4 genome ? AF: 0.361 AC: 54800AN: 152010Hom.: 11490 Cov.: 32 AF XY: 0.358 AC XY: 26610AN XY: 74296
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at