rs11821130
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000534782.4(MIR100HG):n.387+27944A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000321 in 311,644 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
ENST00000534782.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MIR100HG | ENST00000534782.4 | n.387+27944A>T | intron_variant | Intron 2 of 2 | 1 | |||||
MIR100HG | ENST00000534297.2 | n.185+3159A>T | intron_variant | Intron 2 of 3 | 4 | |||||
MIR100HG | ENST00000637700.1 | n.681+3159A>T | intron_variant | Intron 5 of 5 | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000321 AC: 1AN: 311644Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 174614
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.