NM_001211.6(BUB1B):c.2792G>A (p.Arg931Gln) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 23, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002433979.10

Allele description [Variation Report for NM_001211.6(BUB1B):c.2792G>A (p.Arg931Gln)]

NM_001211.6(BUB1B):c.2792G>A (p.Arg931Gln)

Genes:

BUB1B:BUB1 mitotic checkpoint serine/threonine kinase B [Gene - OMIM - HGNC]
BUB1B-PAK6:BUB1B-PAK6 readthrough [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

Preferred name:

NM_001211.6(BUB1B):c.2792G>A (p.Arg931Gln)

HGVS:

NC_000015.10:g.40217609G>A
NG_016338.1:g.61601G>A
NG_033169.1:g.5182G>A
NM_001128628.3:c.-259G>A
NM_001128629.3:c.-176G>A
NM_001211.6:c.2792G>AMANE SELECT
NP_001202.4:p.Arg931Gln
NP_001202.5:p.Arg931Gln
LRG_489t1:c.2792G>A
LRG_489:g.61601G>A
LRG_489p1:p.Arg931Gln
NC_000015.9:g.40509810G>A
NM_001211.5:c.2792G>A

Protein change:

R931Q

Links:

dbSNP: rs751509832

NCBI 1000 Genomes Browser:

rs751509832

Molecular consequence:

NM_001128628.3:c.-259G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001128629.3:c.-176G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001211.6:c.2792G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002748310	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 23, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002748310

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 23, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002748310.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.R931Q variant (also known as c.2792G>A), located in coding exon 21 of the BUB1B gene, results from a G to A substitution at nucleotide position 2792. The arginine at codon 931 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 25, 2025

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