chr11-82421556-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000532217.1(MIR4300HG):n.441-64928C>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 0.82 in 148,232 control chromosomes in the GnomAD database, including 51,319 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
ENST00000532217.1 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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MIR4300HG | ENST00000532217.1 | n.441-64928C>T | intron_variant, non_coding_transcript_variant | 5 | |||||
MIR4300HG | ENST00000668951.1 | n.129+50386C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.820 AC: 121391AN: 148124Hom.: 51268 Cov.: 30
GnomAD4 genome AF: 0.820 AC: 121502AN: 148232Hom.: 51319 Cov.: 30 AF XY: 0.808 AC XY: 58412AN XY: 72316
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at