NC_000015.9:g.(?_73002021)_(73002140_?)del AND Bardet-Biedl syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 10, 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:: RCV004583004.1

Allele description

NC_000015.9:g.(?_73002021)_(73002140_?)del

Gene:: BBS4:Bardet-Biedl syndrome 4 [Gene - OMIM - HGNC]
Variant type:: Deletion
Cytogenetic location:: 15q24.1
Genomic location:: Chr15: 73002021 - 73002140 (on Assembly GRCh37)
Preferred name:: NC_000015.9:g.(?_73002021)_(73002140_?)del
HGVS:: NC_000015.9:g.(?_73002021)_(73002140_?)del
This HGVS expression did not pass validation

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005064078	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 10, 2023)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 11381270, 12016587, 20177705, 27894351, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005064078

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 10, 2023)

unknown

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

Mykytyn K, Braun T, Carmi R, Haider NB, Searby CC, Shastri M, Beck G, Wright AF, Iannaccone A, Elbedour K, Riise R, Baldi A, Raas-Rothschild A, Gorman SW, Duhl DM, Jacobson SG, Casavant T, Stone EM, Sheffield VC.

Nat Genet. 2001 Jun;28(2):188-91.

PubMed [citation]

PMID:: 11381270

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR.

Am J Hum Genet. 2002 Jul;71(1):22-9. Epub 2002 May 15.

PubMed [citation]

PMID:: 12016587
PMCID:: PMC384990

See all PubMed Citations (5)

Details of each submission

From Invitae, SCV005064078.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

This variant is a gross deletion of the genomic region encompassing exon(s) 3 of the BBS4 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in BBS4 are known to be pathogenic (PMID: 11381270, 12016587, 20177705, 27894351). A similar copy number variant has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 27894351). This variant is also known as c.77_156del (p.Ala26Glyfs*15). For these reasons, this variant has been classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 7, 2024

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