13-87577000-C-G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_ModerateBA1
The NR_033829.1(MIR4500HG):n.129-65530G>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 0.355 in 151,798 control chromosomes in the GnomAD database, including 9,995 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
NR_033829.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MIR4500HG | NR_033829.1 | n.129-65530G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MIR4500HG | ENST00000436290.2 | n.129-65530G>C | intron_variant, non_coding_transcript_variant | 1 | |||||
MIR4500HG | ENST00000656150.1 | n.656-16583G>C | intron_variant, non_coding_transcript_variant | ||||||
MIR4500HG | ENST00000658487.1 | n.682+38563G>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.355 AC: 53797AN: 151680Hom.: 9984 Cov.: 32
GnomAD4 genome AF: 0.355 AC: 53837AN: 151798Hom.: 9995 Cov.: 32 AF XY: 0.359 AC XY: 26663AN XY: 74182
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at