chr3-25598336-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001330700.2(TOP2B):c.4852G>A(p.Asp1618Asn) variant causes a missense change. The variant allele was found at a frequency of 0.000000687 in 1,455,648 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D1618E) has been classified as Uncertain significance.
Frequency
Consequence
NM_001330700.2 missense
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TOP2B | NM_001330700.2 | c.4852G>A | p.Asp1618Asn | missense_variant | Exon 36 of 36 | ENST00000264331.9 | NP_001317629.1 | |
TOP2B | NM_001068.3 | c.4837G>A | p.Asp1613Asn | missense_variant | Exon 36 of 36 | NP_001059.2 | ||
TOP2B | XM_011534057.4 | c.4741G>A | p.Asp1581Asn | missense_variant | Exon 35 of 35 | XP_011532359.1 | ||
TOP2B | XM_047448821.1 | c.4726G>A | p.Asp1576Asn | missense_variant | Exon 35 of 35 | XP_047304777.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000407 AC: 1AN: 245880Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133274
GnomAD4 exome AF: 6.87e-7 AC: 1AN: 1455648Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 723806
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at