chr17-8206543-C-G
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 1P and 14B. PP3BP4_ModerateBP6_Very_StrongBS2
The NM_004217.4(AURKB):c.634G>C(p.Gly212Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00126 in 1,614,192 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_004217.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000992 AC: 151AN: 152188Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000958 AC: 241AN: 251450Hom.: 1 AF XY: 0.000957 AC XY: 130AN XY: 135910
GnomAD4 exome AF: 0.00129 AC: 1890AN: 1461886Hom.: 3 Cov.: 31 AF XY: 0.00130 AC XY: 946AN XY: 727246
GnomAD4 genome AF: 0.000985 AC: 150AN: 152306Hom.: 0 Cov.: 32 AF XY: 0.000967 AC XY: 72AN XY: 74468
ClinVar
Submissions by phenotype
not provided Benign:2
- -
This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2,PP3. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at