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NM_033028.5(BBS4):c.712-1G>A AND BBS4-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 19, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003937879.2

Allele description [Variation Report for NM_033028.5(BBS4):c.712-1G>A]

NM_033028.5(BBS4):c.712-1G>A

Gene:
BBS4:Bardet-Biedl syndrome 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q24.1
Genomic location:
Preferred name:
NM_033028.5(BBS4):c.712-1G>A
HGVS:
  • NC_000015.10:g.72731304G>A
  • NG_009416.2:g.50120G>A
  • NG_009416.3:g.50099G>A
  • NM_001252678.2:c.196-1G>A
  • NM_001320665.2:c.643-1G>A
  • NM_033028.5:c.712-1G>AMANE SELECT
  • NC_000015.9:g.73023645G>A
  • NM_033028.3:c.712-1G>A
  • NM_033028.4:c.712-1G>A
Links:
dbSNP: rs377031435
NCBI 1000 Genomes Browser:
rs377031435
Molecular consequence:
  • NM_001252678.2:c.196-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001320665.2:c.643-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_033028.5:c.712-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
BBS4-related disorder
Synonyms:
BBS4-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004747784PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Aug 19, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004747784.2

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

Description

The BBS4 c.712-1G>A variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. This variant has been reported to be pathogenic for Bardet-Biedl syndrome (see for example, Supp. Table S5 of Ellingford et al. 2016. PubMed ID: 27208204). This variant is reported in 0.0046% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Variants that disrupt the consensus splice acceptor site in BBS4 are expected to be pathogenic. This variant is interpreted as pathogenic.

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

Last Updated: Oct 13, 2024