NM_004336.5(BUB1):c.3184T>C (p.Tyr1062His) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 30, 2024
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:: RCV004604172.1

Allele description [Variation Report for NM_004336.5(BUB1):c.3184T>C (p.Tyr1062His)]

NM_004336.5(BUB1):c.3184T>C (p.Tyr1062His)

Gene:

BUB1:BUB1 mitotic checkpoint serine/threonine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q13

Genomic location:

Preferred name:

NM_004336.5(BUB1):c.3184T>C (p.Tyr1062His)

HGVS:

NC_000002.12:g.110638038A>G
NG_012048.1:g.45069T>C
NG_012048.2:g.45025T>C
NM_001278616.2:c.3124T>C
NM_001278617.2:c.3013T>C
NM_004336.5:c.3184T>CMANE SELECT
NP_001265545.1:p.Tyr1042His
NP_001265546.1:p.Tyr1005His
NP_004327.1:p.Tyr1062His
NC_000002.11:g.111395615A>G
NM_004336.3:c.3184T>C

Protein change:

Y1005H

Molecular consequence:

NM_001278616.2:c.3124T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001278617.2:c.3013T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004336.5:c.3184T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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PREDICTED: Mus musculus solute carrier family 6 (neurotransmitter transporter, t...
PREDICTED: Mus musculus solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (Slc6a6), transcript variant X5, mRNA
gi|1907172008|ref|XM_030255304.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005100697	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 30, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005100697

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 30, 2024)

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, SCV005100697.1

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

Description

The p.Y1062H variant (also known as c.3184T>C), located in coding exon 25 of the BUB1 gene, results from a T to C substitution at nucleotide position 3184. The tyrosine at codon 1062 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, 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: Aug 11, 2024

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