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NM_024649.5(BBS1):c.1340-1G>T AND Bardet-Biedl syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 30, 2023
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:
RCV003523008.1

Allele description [Variation Report for NM_024649.5(BBS1):c.1340-1G>T]

NM_024649.5(BBS1):c.1340-1G>T

Genes:
BBS1:Bardet-Biedl syndrome 1 [Gene - OMIM - HGNC]
ZDHHC24:zinc finger DHHC-type containing 24 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_024649.5(BBS1):c.1340-1G>T
HGVS:
  • NC_000011.10:g.66529818G>T
  • NG_009093.1:g.24171G>T
  • NM_001348571.2:c.560-330C>A
  • NM_024649.5:c.1340-1G>TMANE SELECT
  • NC_000011.9:g.66297289G>T
  • NM_024649.4:c.1340-1G>T
Links:
dbSNP: rs1555049893
NCBI 1000 Genomes Browser:
rs1555049893
Molecular consequence:
  • NM_001348571.2:c.560-330C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_024649.5:c.1340-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Bardet-Biedl syndrome (BBS)
Identifiers:
MONDO: MONDO:0015229; MedGen: C0752166; Orphanet: 110; OMIM: PS209900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004291439Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Sep 30, 2023)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.

Grudzinska Pechhacker MK, Jacobson SG, Drack AV, Scipio MD, Strubbe I, Pfeifer W, Duncan JL, Dollfus H, Goetz N, Muller J, Vincent AL, Aleman TS, Tumber A, Van Cauwenbergh C, De Baere E, Bedoukian E, Leroy BP, Maynes JT, Munier FL, Tavares E, Saleh E, Vincent A, et al.

Invest Ophthalmol Vis Sci. 2021 Dec 1;62(15):26. doi: 10.1167/iovs.62.15.26.

PubMed [citation]
PMID:
34940782
PMCID:
PMC8711006

Splicing in action: assessing disease causing sequence changes.

Baralle D, Baralle M.

J Med Genet. 2005 Oct;42(10):737-48. Review.

PubMed [citation]
PMID:
16199547
PMCID:
PMC1735933
See all PubMed Citations (6)

Details of each submission

From Invitae, SCV004291439.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 553542). Disruption of this splice site has been observed in individuals with clinical features of Bardet-Biedl syndrome (PMID: 34940782). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 13 of the BBS1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BBS1 are known to be pathogenic (PMID: 12118255, 21520335, 27032803). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Jul 7, 2024