NM_024685.4(BBS10):c.2052del (p.Lys684fs) AND Bardet-Biedl syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 30, 2019
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:: RCV001224182.8

Allele description [Variation Report for NM_024685.4(BBS10):c.2052del (p.Lys684fs)]

NM_024685.4(BBS10):c.2052del (p.Lys684fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

12q21.2

Genomic location:

Preferred name:

NM_024685.4(BBS10):c.2052del (p.Lys684fs)

HGVS:

NC_000012.12:g.76345935del
NG_016357.1:g.7510del
NM_024685.4:c.2052delMANE SELECT
NP_078961.3:p.Lys684fs
LRG_1255t1:c.2052del
LRG_1255:g.7510del
LRG_1255p1:p.Lys684fs
NC_000012.11:g.76739713del
NC_000012.11:g.76739715del
NM_024685.3:c.2052del

Protein change:

K684fs

Links:

dbSNP: rs1951753726

NCBI 1000 Genomes Browser:

rs1951753726

Molecular consequence:

NM_024685.4:c.2052del - 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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Homo sapiens cyclic AMP phosphoprotein, 19 kD, mRNA (cDNA clone MGC:110890 IMAGE...
Homo sapiens cyclic AMP phosphoprotein, 19 kD, mRNA (cDNA clone MGC:110890 IMAGE:30347082), complete cds
gi|72679296|gb|BC100015.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001396365	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (May 30, 2019)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 25982971, 22773737, 27486776, 20472660, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001396365

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(May 30, 2019)

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

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.

Scheidecker S, Hull S, Perdomo Y, Studer F, Pelletier V, Muller J, Stoetzel C, Schaefer E, Defoort-Dhellemmes S, Drumare I, Holder GE, Hamel CP, Webster AR, Moore AT, Puech B, Dollfus HJ.

Am J Ophthalmol. 2015 Aug;160(2):364-372.e1. doi: 10.1016/j.ajo.2015.05.007. Epub 2015 May 15.

PubMed [citation]

PMID:: 25982971

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, SCV001396365.5

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

Description

This sequence change results in a premature translational stop signal in the BBS10 gene (p.Lys684Asnfs*5). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 40 amino acids of the BBS10 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BBS10-related conditions. This variant disrupts the C-terminus of the BBS10 protein. Other variant(s) that disrupt this region (p.Val707*) have been determined to be pathogenic (PMID: 25982971, 22773737, 27486776, 20472660). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. 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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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