rs72624904
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000607245.1(ENSG00000272434):n.104G>A variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000142 in 1,125,234 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
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IMPDH2 | NM_000884.3 | upstream_gene_variant | ENST00000326739.9 | ||||
IMPDH2 | NM_001410759.1 | upstream_gene_variant | |||||
IMPDH2 | NM_001410760.1 | upstream_gene_variant | |||||
IMPDH2 | NM_001410761.1 | upstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000607245.1 | n.104G>A | non_coding_transcript_exon_variant | 1/1 | ||||||
IMPDH2 | ENST00000326739.9 | upstream_gene_variant | 1 | NM_000884.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152260Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000282 AC: 4AN: 142018Hom.: 0 AF XY: 0.0000131 AC XY: 1AN XY: 76340
GnomAD4 exome AF: 0.0000134 AC: 13AN: 972856Hom.: 0 Cov.: 13 AF XY: 0.0000101 AC XY: 5AN XY: 496772
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152378Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74516
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at