13-91363723-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000710422.1(MIR17HG):n.407+13497G>A 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 0.538 in 151,838 control chromosomes in the GnomAD database, including 22,588 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
ENST00000710422.1 intron, non_coding_transcript
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 | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MIR17HG | ENST00000710422.1 | n.407+13497G>A | intron_variant, non_coding_transcript_variant | ||||||
MIR17HG | ENST00000710414.1 | n.5180G>A | non_coding_transcript_exon_variant | 2/2 | |||||
MIR17HG | ENST00000710421.1 | n.336+13953G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.538 AC: 81634AN: 151720Hom.: 22576 Cov.: 31
GnomAD4 genome ? AF: 0.538 AC: 81670AN: 151838Hom.: 22588 Cov.: 31 AF XY: 0.536 AC XY: 39812AN XY: 74220
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at