rs11821130
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The ENST00000534782.4(MIR100HG):n.387+27944A>G 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 0.00459 in 463,940 control chromosomes in the GnomAD database, including 36 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
ENST00000534782.4 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.491+3159A>G | intron_variant, non_coding_transcript_variant | ||||
MIR100HG | NR_137179.1 | n.445+3159A>G | intron_variant, non_coding_transcript_variant | ||||
MIR100HG | NR_137180.1 | n.503+3159A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MIR100HG | ENST00000534782.4 | n.387+27944A>G | intron_variant, non_coding_transcript_variant | 1 | |||||
MIR100HG | ENST00000534297.2 | n.185+3159A>G | intron_variant, non_coding_transcript_variant | 4 | |||||
MIR100HG | ENST00000637700.1 | n.681+3159A>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0112 AC: 1703AN: 152182Hom.: 30 Cov.: 33
GnomAD4 exome AF: 0.00136 AC: 423AN: 311640Hom.: 6 AF XY: 0.00103 AC XY: 180AN XY: 174614
GnomAD4 genome ? AF: 0.0112 AC: 1708AN: 152300Hom.: 30 Cov.: 33 AF XY: 0.0113 AC XY: 838AN XY: 74452
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at