15-40218501-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001211.6(BUB1B):c.2896A>G(p.Lys966Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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 (★).
Frequency
Consequence
NM_001211.6 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BUB1B | NM_001211.6 | c.2896A>G | p.Lys966Glu | missense_variant | 22/23 | ENST00000287598.11 | NP_001202.5 | |
BUB1B-PAK6 | NM_001128628.3 | c.-201+834A>G | intron_variant | NP_001122100.1 | ||||
LOC107984763 | XR_001751506.2 | n.217+20984T>C | intron_variant, non_coding_transcript_variant | |||||
BUB1B-PAK6 | NM_001128629.3 | c.-118+834A>G | intron_variant | NP_001122101.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BUB1B | ENST00000287598.11 | c.2896A>G | p.Lys966Glu | missense_variant | 22/23 | 1 | NM_001211.6 | ENSP00000287598 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 25, 2024 | The p.K966E variant (also known as c.2896A>G), located in coding exon 22 of the BUB1B gene, results from an A to G substitution at nucleotide position 2896. The lysine at codon 966 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.