NM_024685.4(BBS10):c.2044dup (p.Met682fs) AND Bardet-Biedl syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 3, 2021
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:: RCV001941953.4

Allele description [Variation Report for NM_024685.4(BBS10):c.2044dup (p.Met682fs)]

NM_024685.4(BBS10):c.2044dup (p.Met682fs)

Gene:

BBS10:Bardet-Biedl syndrome 10 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

12q21.2

Genomic location:

Preferred name:

NM_024685.4(BBS10):c.2044dup (p.Met682fs)

HGVS:

NC_000012.12:g.76345942dup
NG_016357.1:g.7502dup
NM_024685.4:c.2044dupMANE SELECT
NP_078961.3:p.Met682fs
LRG_1255t1:c.2044dup
LRG_1255:g.7502dup
LRG_1255p1:p.Met682fs
NC_000012.11:g.76739720_76739721insT
NC_000012.11:g.76739722dup

Protein change:

M682fs

Links:

dbSNP: rs2136089682

NCBI 1000 Genomes Browser:

rs2136089682

Molecular consequence:

NM_024685.4:c.2044dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Rattus norvegicus centrosomal protein 57-like 1 (Cep57l1), mRNA
Rattus norvegicus centrosomal protein 57-like 1 (Cep57l1), mRNA
gi|836942310|ref|NM_001017448.2|

Nucleotide

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
SCV002235753	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 3, 2021)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 20472660, 22773737, 25982971, 27486776, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002235753

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 3, 2021)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.

Billingsley G, Bin J, Fieggen KJ, Duncan JL, Gerth C, Ogata K, Wodak SS, Traboulsi EI, Fishman GA, Paterson A, Chitayat D, Knueppel T, Millán JM, Mitchell GA, Deveault C, Héon E.

J Med Genet. 2010 Jul;47(7):453-63. doi: 10.1136/jmg.2009.073205. Epub 2010 May 14.

PubMed [citation]

PMID:: 20472660

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, Chiurazzi P, Lacombe D, Ouertani I, Petit F, Till M, Verloes A, Jost B, Chaabouni HB, Dollfus H, Mandel JL, Muller J.

J Med Genet. 2012 Aug;49(8):502-12. doi: 10.1136/jmedgenet-2012-100875. Epub 2012 Jul 7.

PubMed [citation]

PMID:: 22773737
PMCID:: PMC3436454

See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002235753.3

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

Description

For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the BBS10 protein in which other variant(s) (p.Val707*) have been determined to be pathogenic (PMID: 20472660, 22773737, 25982971, 27486776). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with BBS10-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Met682Asnfs*3) in the BBS10 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 42 amino acid(s) of the BBS10 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: Sep 29, 2024

ClinVar

Relating variation to medicine