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NM_004336.5(BUB1):c.3209G>C (p.Arg1070Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 14, 2021
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:
RCV004048961.1

Allele description [Variation Report for NM_004336.5(BUB1):c.3209G>C (p.Arg1070Pro)]

NM_004336.5(BUB1):c.3209G>C (p.Arg1070Pro)

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.3209G>C (p.Arg1070Pro)
HGVS:
  • NC_000002.12:g.110638013C>G
  • NG_012048.2:g.45050G>C
  • NM_001278616.2:c.3149G>C
  • NM_001278617.2:c.3038G>C
  • NM_004336.5:c.3209G>CMANE SELECT
  • NP_001265545.1:p.Arg1050Pro
  • NP_001265546.1:p.Arg1013Pro
  • NP_004327.1:p.Arg1070Pro
  • NC_000002.11:g.111395590C>G
  • NG_012048.1:g.45094G>C
  • NM_004336.3:c.3209G>C
Protein change:
R1013P
Molecular consequence:
  • NM_001278616.2:c.3149G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278617.2:c.3038G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004336.5:c.3209G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002610339Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 14, 2021) 		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, SCV002610339.2

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

Description

The p.R1070P variant (also known as c.3209G>C), located in coding exon 25 of the BUB1 gene, results from a G to C substitution at nucleotide position 3209. The arginine at codon 1070 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. 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