NM_152618.3(BBS12):c.202C>T (p.Gln68Ter) AND Bardet-Biedl syndrome

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 9, 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:: RCV003634035.1

Allele description

NM_152618.3(BBS12):c.202C>T (p.Gln68Ter)

Gene:

BBS12:Bardet-Biedl syndrome 12 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q27

Genomic location:

Preferred name:

NM_152618.3(BBS12):c.202C>T (p.Gln68Ter)

HGVS:

NC_000004.12:g.122742094C>T
NG_021203.1:g.14393C>T
NG_021203.2:g.46654C>T
NM_001178007.2:c.202C>T
NM_152618.3:c.202C>TMANE SELECT
NP_001171478.1:p.Gln68Ter
NP_689831.2:p.Gln68Ter
NC_000004.11:g.123663249C>T

Protein change:

Q68*

Molecular consequence:

NM_001178007.2:c.202C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_152618.3:c.202C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

Recent activity

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ubiquitin-conjugating enzyme E2 34-like [Cucurbita pepo subsp. pepo]
ubiquitin-conjugating enzyme E2 34-like [Cucurbita pepo subsp. pepo]
gi|1333107826|ref|XP_023527881.1|

Protein
3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial isoform X1 [Momordica c...
3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial isoform X1 [Momordica charantia]
gi|1229792426|ref|XP_022149764.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004558182	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Apr 9, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 17160889, 23591405, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004558182

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Apr 9, 2023)

germline

clinical testing

PubMed (3)
[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

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, Danse JM, Verloes A, Bonneau D, Katsanis N, Poch O, Mandel JL, Dollfus H.

Am J Hum Genet. 2007 Jan;80(1):1-11. Epub 2006 Nov 15.

PubMed [citation]

PMID:: 17160889
PMCID:: PMC1785304

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

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV004558182.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This variant disrupts a region of the BBS12 protein in which other variant(s) (p.Arg355*) have been determined to be pathogenic (PMID: 17160889, 23591405). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BBS12-related conditions. This variant is present in population databases (rs752586913, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Gln68*) in the BBS12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 643 amino acid(s) of the BBS12 protein.

#	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 28, 2024

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