rs657514
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000533109.6(MIR100HG):n.916+5840G>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 0.532 in 151,824 control chromosomes in the GnomAD database, including 21,547 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
ENST00000533109.6 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 |
---|---|---|---|---|---|---|---|
MIR100HG | NR_024430.2 | n.409+5840G>T | intron_variant, non_coding_transcript_variant | ||||
MIR100HG | NR_137179.1 | n.363+5840G>T | intron_variant, non_coding_transcript_variant | ||||
MIR100HG | NR_137180.1 | n.421+5840G>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MIR100HG | ENST00000533109.6 | n.916+5840G>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.532 AC: 80719AN: 151706Hom.: 21525 Cov.: 32
GnomAD4 genome ? AF: 0.532 AC: 80778AN: 151824Hom.: 21547 Cov.: 32 AF XY: 0.533 AC XY: 39570AN XY: 74180
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at