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NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu) AND Mosaic variegated aneuploidy syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 8, 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:
RCV001543132.9

Allele description [Variation Report for NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu)]

NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu)

Gene:
BUB1B:BUB1 mitotic checkpoint serine/threonine kinase B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q15.1
Genomic location:
Preferred name:
NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu)
HGVS:
  • NC_000015.10:g.40185585C>T
  • NG_016338.1:g.29577C>T
  • NM_001211.6:c.1001C>TMANE SELECT
  • NP_001202.4:p.Pro334Leu
  • NP_001202.5:p.Pro334Leu
  • LRG_489t1:c.1001C>T
  • LRG_489:g.29577C>T
  • LRG_489p1:p.Pro334Leu
  • NC_000015.9:g.40477786C>T
  • NM_001211.5:c.1001C>T
Protein change:
P334L
Links:
dbSNP: rs141953425
NCBI 1000 Genomes Browser:
rs141953425
Molecular consequence:
  • NM_001211.6:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mosaic variegated aneuploidy syndrome
Synonyms:
MVA syndrome
Identifiers:
MONDO: MONDO:0000141; MedGen: C4551972; Orphanet: 1052; OMIM: PS257300

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001761652St. Jude Molecular Pathology, St. Jude Children's Research Hospital
criteria provided, single submitter

(St. Jude Assertion Criteria 2020)		Uncertain significance
(Jul 8, 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 St. Jude Molecular Pathology, St. Jude Children's Research Hospital, SCV001761652.1

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

Description

The BUB1B c.1001C>T (p.Pro334Leu) missense change has a maximum subpopulation frequency of 0.13% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/variant/15-40477786-C-T). In silico tools are not in agreement about the effect of this variant on protein function, but to our knowledge these predictions have not been confirmed by functional assays. This variant has been reported in a patient with Ph+ acute lymphoblastic leukemia (PMID: 26580448). It has also been identified in 2/1358 non-cancer control individuals in a study of individuals with multiple primary cancers (PMID: 29641532). To our knowledge, this variant has not been reported in individuals with mosaic variegated aneuploidy syndrome. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: no criteria met.

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

Last Updated: Nov 24, 2024