chr15:40212554:G>A Detail (hg38) (BUB1B)

Information

Genome

Assembly Position
hg19 chr15:40,504,755-40,504,755 View the variant detail on this assembly version.
hg38 chr15:40,212,554-40,212,554

HGVS

Type Transcript Protein
RefSeq NM_001211.5:c.2441G>A NP_001202.4:p.Arg814His
Ensemble ENST00000287598.11:c.2441G>A ENST00000287598.11:p.Arg814His
ENST00000412359.7:c.2483G>A ENST00000412359.7:p.Arg828His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 602860 OMIM
HGNC 1149 HGNC
Ensembl ENSG00000156970 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv52625489 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2022-05-14 criteria provided, multiple submitters, no conflicts mosaic variegated aneuploidy syndrome 1 germline maternal Detail
Pathogenic 2024-05-14 criteria provided, single submitter Premature chromatid separation trait germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.562 mosaic variegated aneuploidy syndrome NA CLINVAR Detail
0.562 mosaic variegated aneuploidy syndrome Constitutional aneuploidy and cancer predisposition caused by biallelic mutation... UNIPROT 15475955 Detail
0.360 Premature chromatid separation trait NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001211.6(BUB1B):c.2441G>A (p.Arg814His) AND Mosaic variegated aneuploidy syndrome 1 ClinVar Detail
NM_001211.6(BUB1B):c.2441G>A (p.Arg814His) AND Premature chromatid separation trait ClinVar Detail
NA DisGeNET Detail
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs28989182 dbSNP
Genome
hg38
Position
chr15:40,212,554-40,212,554
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1201
Mean of sample read depth (HGVD)
35.61
Standard deviation of sample read depth (HGVD)
18.50
Number of reference allele (HGVD)
2400
Number of alternative allele (HGVD)
2
Allele Frequency (HGVD)
8.326394671107411E-4
Gene Symbol (HGVD)
BUB1B
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs28989182
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser