rs2186690
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000532217.1(MIR4300HG):n.440+64787T>C 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 0.911 in 152,158 control chromosomes in the GnomAD database, including 63,208 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 | Protein | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MIR4300HG | ENST00000532217.1 | n.440+64787T>C | intron_variant, non_coding_transcript_variant | 5 | ||||||
ENST00000661021.1 | n.402-4204T>C | intron_variant, non_coding_transcript_variant | ||||||||
ENST00000527364.2 | n.485+1708T>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.911 AC: 138497AN: 152040Hom.: 63138 Cov.: 33
GnomAD4 genome AF: 0.911 AC: 138625AN: 152158Hom.: 63208 Cov.: 33 AF XY: 0.911 AC XY: 67792AN XY: 74390
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at