2-110638013-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004336.5(BUB1):āc.3209G>Cā(p.Arg1070Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000694 in 1,441,822 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R1070C) has been classified as Uncertain significance.
Frequency
Consequence
NM_004336.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BUB1 | NM_004336.5 | c.3209G>C | p.Arg1070Pro | missense_variant | 25/25 | ENST00000302759.11 | |
BUB1 | NM_001278616.2 | c.3149G>C | p.Arg1050Pro | missense_variant | 24/24 | ||
BUB1 | NM_001278617.2 | c.3038G>C | p.Arg1013Pro | missense_variant | 24/24 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BUB1 | ENST00000302759.11 | c.3209G>C | p.Arg1070Pro | missense_variant | 25/25 | 1 | NM_004336.5 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.94e-7 AC: 1AN: 1441822Hom.: 0 Cov.: 30 AF XY: 0.00000140 AC XY: 1AN XY: 716604
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 14, 2021 | The p.R1070P variant (also known as c.3209G>C), located in coding exon 25 of the BUB1 gene, results from a G to C substitution at nucleotide position 3209. The arginine at codon 1070 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, 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.