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NM_004336.5(BUB1):c.3060A>C (p.Arg1020Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 16, 2022
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:
RCV004066412.1

Allele description [Variation Report for NM_004336.5(BUB1):c.3060A>C (p.Arg1020Ser)]

NM_004336.5(BUB1):c.3060A>C (p.Arg1020Ser)

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.3060A>C (p.Arg1020Ser)
HGVS:
  • NC_000002.12:g.110639744T>G
  • NG_012048.2:g.43319A>C
  • NM_001278616.2:c.3000A>C
  • NM_001278617.2:c.2889A>C
  • NM_004336.5:c.3060A>CMANE SELECT
  • NP_001265545.1:p.Arg1000Ser
  • NP_001265546.1:p.Arg963Ser
  • NP_004327.1:p.Arg1020Ser
  • NC_000002.11:g.111397321T>G
  • NG_012048.1:g.43363A>C
  • NM_004336.3:c.3060A>C
Protein change:
R1000S
Molecular consequence:
  • NM_001278616.2:c.3000A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278617.2:c.2889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004336.5:c.3060A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002752964Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 16, 2022) 		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, SCV002752964.2

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

Description

The p.R1020S variant (also known as c.3060A>C), located in coding exon 24 of the BUB1 gene, results from an A to C substitution at nucleotide position 3060. The arginine at codon 1020 is replaced by serine, an amino acid with dissimilar 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: Nov 10, 2024