rs516175
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000700799.1(MIR124-1HG):n.102-6029C>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 0.15 in 152,172 control chromosomes in the GnomAD database, including 1,914 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
ENST00000700799.1 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 |
---|---|---|---|---|---|---|---|
LOC124902057 | XR_007061170.1 | n.74-6701C>T | intron_variant, non_coding_transcript_variant | ||||
LOC124902057 | XR_007061167.1 | n.74-6029C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MIR124-1HG | ENST00000700799.1 | n.102-6029C>T | intron_variant, non_coding_transcript_variant | ||||||
MIR124-1HG | ENST00000693527.1 | n.102-6029C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.150 AC: 22745AN: 152054Hom.: 1899 Cov.: 33
GnomAD4 genome ? AF: 0.150 AC: 22804AN: 152172Hom.: 1914 Cov.: 33 AF XY: 0.151 AC XY: 11212AN XY: 74408
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at