NM_001282112.2:c.2510G>A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001282112.2(TOP3B):c.2510G>A(p.Arg837Gln) variant causes a missense change. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001282112.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TOP3B | NM_001282112.2 | c.2510G>A | p.Arg837Gln | missense_variant | Exon 18 of 18 | ENST00000357179.10 | NP_001269041.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 18AN: 150376Hom.: 0 Cov.: 27 FAILED QC
GnomAD3 exomes AF: 0.000139 AC: 11AN: 79372Hom.: 0 AF XY: 0.000195 AC XY: 8AN XY: 41100
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.000199 AC: 246AN: 1234538Hom.: 0 Cov.: 18 AF XY: 0.000205 AC XY: 125AN XY: 608912
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.000113 AC: 17AN: 150494Hom.: 0 Cov.: 27 AF XY: 0.000136 AC XY: 10AN XY: 73466
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2510G>A (p.R837Q) alteration is located in exon 18 (coding exon 17) of the TOP3B gene. This alteration results from a G to A substitution at nucleotide position 2510, causing the arginine (R) at amino acid position 837 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at