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NM_024649.5(BBS1):c.788_797dup (p.Asn269fs) AND Bardet-Biedl syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 27, 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:
RCV003633048.2

Allele description [Variation Report for NM_024649.5(BBS1):c.788_797dup (p.Asn269fs)]

NM_024649.5(BBS1):c.788_797dup (p.Asn269fs)

Genes:
BBS1:Bardet-Biedl syndrome 1 [Gene - OMIM - HGNC]
ZDHHC24:zinc finger DHHC-type containing 24 [Gene - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_024649.5(BBS1):c.788_797dup (p.Asn269fs)
HGVS:
  • NC_000011.10:g.66521334_66521343dup
  • NG_009093.1:g.15687_15696dup
  • NM_001348571.2:c.*149_*158dup
  • NM_024649.5:c.788_797dupMANE SELECT
  • NP_078925.3:p.Asn269fs
  • NC_000011.9:g.66288800_66288801insCGGCTTGCCG
  • NC_000011.9:g.66288805_66288814dup
Protein change:
N269fs
Molecular consequence:
  • NM_001348571.2:c.*149_*158dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_024649.5:c.788_797dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004461060Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 27, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Lüleci G, Chandrasekharappa SC, Collins FS, Jacobson SG, Heckenlively JR, Weleber RG, Stone EM, Sheffield VC.

Nat Genet. 2002 Aug;31(4):435-8. Epub 2002 Jul 15.

PubMed [citation]
PMID:
12118255

U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation.

Schmid F, Glaus E, Barthelmes D, Fliegauf M, Gaspar H, Nürnberg G, Nürnberg P, Omran H, Berger W, Neidhardt J.

Hum Mutat. 2011 Jul;32(7):815-24. doi: 10.1002/humu.21509.

PubMed [citation]
PMID:
21520335
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004461060.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BBS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn269Glyfs*95) in the BBS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS1 are known to be pathogenic (PMID: 12118255, 21520335, 27032803).

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

Last Updated: Dec 7, 2024