NM_033028.5(BBS4):c.514dup (p.Ile172fs) AND Bardet-Biedl syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 19, 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:: RCV002638103.2

Allele description [Variation Report for NM_033028.5(BBS4):c.514dup (p.Ile172fs)]

NM_033028.5(BBS4):c.514dup (p.Ile172fs)

Gene:

BBS4:Bardet-Biedl syndrome 4 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

15q24.1

Genomic location:

Preferred name:

NM_033028.5(BBS4):c.514dup (p.Ile172fs)

HGVS:

NC_000015.10:g.72724582dup
NG_009416.3:g.43377dup
NM_001252678.2:c.-3dup
NM_001320665.2:c.514dup
NM_033028.5:c.514dupMANE SELECT
NP_001307594.1:p.Ile172fs
NP_149017.2:p.Ile172fs
NC_000015.9:g.73016922_73016923insA
NC_000015.9:g.73016923dup
NG_009416.2:g.43398dup
NR_045565.2:n.593dup
NR_045566.2:n.848dup

Protein change:

I172fs

Molecular consequence:

NM_001252678.2:c.-3dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001320665.2:c.514dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033028.5:c.514dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_045565.2:n.593dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_045566.2:n.848dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003521479	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 19, 2023)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 23591405, 11381270, 12016587, 20177705, 27894351, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003521479

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 19, 2023)

germline

clinical testing

PubMed (6)
[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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J.

Eur J Hum Genet. 2014 Jan;22(1):99-104. doi: 10.1038/ejhg.2013.72. Epub 2013 Apr 17.

PubMed [citation]

PMID:: 23591405
PMCID:: PMC3865404

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

See all PubMed Citations (6)

Details of each submission

From Invitae, SCV003521479.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

This premature translational stop signal has been observed in individual(s) with BBS4-related conditions (PMID: 23591405). This variant is present in population databases (rs779047261, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Ile172Asnfs*18) in the BBS4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS4 are known to be pathogenic (PMID: 11381270, 12016587, 20177705, 27894351). This variant is also known as c.515dupA. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2200217).

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

Last Updated: Feb 20, 2024

ClinVar

Relating variation to medicine