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NM_001211.6(BUB1B):c.3105A>G (p.Leu1035=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 7, 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:
RCV002320005.2

Allele description [Variation Report for NM_001211.6(BUB1B):c.3105A>G (p.Leu1035=)]

NM_001211.6(BUB1B):c.3105A>G (p.Leu1035=)

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.3105A>G (p.Leu1035=)
HGVS:
  • NC_000015.10:g.40220711A>G
  • NG_016338.1:g.64703A>G
  • NG_033169.1:g.8284A>G
  • NM_001128628.3:c.-201+3044A>G
  • NM_001128629.3:c.-118+3044A>G
  • NM_001211.6:c.3105A>GMANE SELECT
  • NP_001202.4:p.Leu1035=
  • NP_001202.5:p.Leu1035=
  • LRG_489t1:c.3105A>G
  • LRG_489:g.64703A>G
  • LRG_489p1:p.Leu1035=
  • NC_000015.9:g.40512912A>G
  • NM_001211.5:c.3105A>G
Links:
dbSNP: rs576684184
NCBI 1000 Genomes Browser:
rs576684184
Molecular consequence:
  • NM_001128628.3:c.-201+3044A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128629.3:c.-118+3044A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001211.6:c.3105A>G - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV002605935Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Mar 7, 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, SCV002605935.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024