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NM_198428.3(BBS9):c.263+1G>A AND BBS9-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 16, 2023
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:
RCV003912812.2

Allele description [Variation Report for NM_198428.3(BBS9):c.263+1G>A]

NM_198428.3(BBS9):c.263+1G>A

Gene:
BBS9:Bardet-Biedl syndrome 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p14.3
Genomic location:
Preferred name:
NM_198428.3(BBS9):c.263+1G>A
HGVS:
  • NC_000007.14:g.33152852G>A
  • NG_009306.2:g.28609G>A
  • NM_001033604.2:c.263+1G>A
  • NM_001033605.2:c.263+1G>A
  • NM_001348036.1:c.263+1G>A
  • NM_001348037.3:c.-39+1G>A
  • NM_001348038.3:c.-14G>A
  • NM_001348039.3:c.-14G>A
  • NM_001348040.3:c.263+1G>A
  • NM_001348041.4:c.263+1G>A
  • NM_001348042.3:c.128+1G>A
  • NM_001348043.3:c.263+1G>A
  • NM_001348044.3:c.-39+22811G>A
  • NM_001348045.3:c.-39+1G>A
  • NM_001348046.3:c.-39+22811G>A
  • NM_001362679.1:c.263+1G>A
  • NM_014451.4:c.263+1G>A
  • NM_198428.3:c.263+1G>AMANE SELECT
  • NC_000007.13:g.33192464G>A
  • NM_198428.2:c.263+1G>A
Links:
dbSNP: rs137962929
NCBI 1000 Genomes Browser:
rs137962929
Molecular consequence:
  • NM_001348038.3:c.-14G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001348039.3:c.-14G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001348044.3:c.-39+22811G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001348046.3:c.-39+22811G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001033604.2:c.263+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001033605.2:c.263+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348036.1:c.263+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348037.3:c.-39+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348040.3:c.263+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348041.4:c.263+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348042.3:c.128+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348043.3:c.263+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348045.3:c.-39+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001362679.1:c.263+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_014451.4:c.263+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_198428.3:c.263+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
BBS9-related disorder
Synonyms:
BBS9-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004731986PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Nov 16, 2023) 		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, SCV004731986.2

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

Description

The BBS9 c.263+1G>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. This canonical splice variant has been reported in the homozygous state in an individual with Bardet-Biedl syndrome (Fattahi et al. 2014. PubMed ID: 24849935). This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD. Variants that disrupt the consensus splice donor site in BBS9 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: Jan 25, 2025