chr15:40217580:G>C Detail (hg38) (BUB1B, PAK6, BUB1B-PAK6)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr15:40,509,781-40,509,781 View the variant detail on this assembly version.
hg38	chr15:40,217,580-40,217,580

HGVS

BUB1B
PAK6

Type	Transcript	Protein
RefSeq	NM_001211.5:c.2763G>C	NP_001202.4:p.Gln921His
Ensemble	ENST00000287598.11:c.2763G>C	ENST00000287598.11:p.Gln921His
	ENST00000412359.7:c.2805G>C	ENST00000412359.7:p.Gln935His

Type	Transcript	Protein
RefSeq	NM_001128628.2:c.-288G>C
Ensemble	ENST00000441369.6:c.-288G>C
	ENST00000453867.7:c.-205G>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

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

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
Show details

Links

BUB1B
PAK6

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
	COSMIC
	MONDO

Type	Database	ID	Link
Gene	MIM	608110	OMIM
	HGNC	16061	HGNC
	Ensembl	ENSG00000137843	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2024-01-04	criteria provided, multiple submitters, no conflicts	mosaic variegated aneuploidy syndrome 1	germline unknown	Detail
Affects	2004-11-01	no assertion criteria provided	Premature chromatid separation trait	germline	Detail
Conflicting interpretations of pathogenicity	2023-03-01	criteria provided, conflicting interpretations	not provided	germline	Detail
Uncertain significance	2022-04-04	criteria provided, single submitter	Inborn genetic diseases	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.562	mosaic variegated aneuploidy syndrome	Constitutional aneuploidy and cancer predisposition caused by biallelic mutation...	UNIPROT	15475955	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001211.6(BUB1B):c.2763G>C (p.Gln921His) AND Mosaic variegated aneuploidy syndrome 1	ClinVar	Detail
NM_001211.6(BUB1B):c.2763G>C (p.Gln921His) AND Premature chromatid separation trait	ClinVar	Detail
NM_001211.6(BUB1B):c.2763G>C (p.Gln921His) AND not provided	ClinVar	Detail
NM_001211.6(BUB1B):c.2763G>C (p.Gln921His) AND Inborn genetic diseases	ClinVar	Detail
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.	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: rs28989183 dbSNP
Genome: hg38
Position: chr15:40,217,580-40,217,580
Variant Type: snv
Reference Allele: G
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121406
Allele Counts in All Race (ExAC): 22
Heterozygous Counts in All Race (ExAC): 22
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.8121015435810421E-4

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