15-59114760-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004701.4(CCNB2):āc.481A>Gā(p.Ile161Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000159 in 1,613,994 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_004701.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CCNB2 | ENST00000288207.7 | c.481A>G | p.Ile161Val | missense_variant | Exon 5 of 9 | 1 | NM_004701.4 | ENSP00000288207.2 | ||
CCNB2 | ENST00000621385.1 | c.481A>G | p.Ile161Val | missense_variant | Exon 5 of 8 | 1 | ENSP00000480809.1 | |||
CCNB2 | ENST00000559622.5 | c.238A>G | p.Ile80Val | missense_variant | Exon 3 of 6 | 5 | ENSP00000453685.1 |
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152218Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000716 AC: 18AN: 251384Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135858
GnomAD4 exome AF: 0.000163 AC: 238AN: 1461776Hom.: 0 Cov.: 32 AF XY: 0.000162 AC XY: 118AN XY: 727180
GnomAD4 genome AF: 0.000118 AC: 18AN: 152218Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74372
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.481A>G (p.I161V) alteration is located in exon 5 (coding exon 5) of the CCNB2 gene. This alteration results from a A to G substitution at nucleotide position 481, causing the isoleucine (I) at amino acid position 161 to be replaced by a valine (V). 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