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NM_001211.6(BUB1B):c.3134G>A (p.Gly1045Glu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 22, 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:
RCV004508275.1

Allele description [Variation Report for NM_001211.6(BUB1B):c.3134G>A (p.Gly1045Glu)]

NM_001211.6(BUB1B):c.3134G>A (p.Gly1045Glu)

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.3134G>A (p.Gly1045Glu)
HGVS:
  • NC_000015.10:g.40220740G>A
  • NG_016338.1:g.64732G>A
  • NG_033169.1:g.8313G>A
  • NM_001128628.3:c.-201+3073G>A
  • NM_001128629.3:c.-118+3073G>A
  • NM_001211.6:c.3134G>AMANE SELECT
  • NP_001202.4:p.Gly1045Glu
  • NP_001202.5:p.Gly1045Glu
  • LRG_489t1:c.3134G>A
  • LRG_489:g.64732G>A
  • LRG_489p1:p.Gly1045Glu
  • NC_000015.9:g.40512941G>A
  • NM_001211.5:c.3134G>A
Protein change:
G1045E
Molecular consequence:
  • NM_001128628.3:c.-201+3073G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128629.3:c.-118+3073G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001211.6:c.3134G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005017316Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 22, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV005017316.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.G1045E variant (also known as c.3134G>A), located in coding exon 23 of the BUB1B gene, results from a G to A substitution at nucleotide position 3134. The glycine at codon 1045 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024