NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) AND Bardet-Biedl syndrome

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Jan 11, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000590291.10

Allele description [Variation Report for NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)]

NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)

Gene:

BBS2:Bardet-Biedl syndrome 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q13

Genomic location:

Preferred name:

NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)

HGVS:

NC_000016.10:g.56484820G>A
NG_009312.2:g.40205C>T
NM_001377456.1:c.2107C>T
NM_031885.5:c.2107C>TMANE SELECT
NP_001364385.1:p.Arg703Ter
NP_114091.3:p.Arg703Ter
NP_114091.4:p.Arg703Ter
NC_000016.9:g.56518732G>A
NG_009312.1:g.40464C>T
NM_031885.3:c.2107C>T
NM_031885.4:c.2107C>T
NR_165293.1:n.2397C>T
NR_165294.1:n.2394C>T
NR_165295.1:n.2225C>T
NR_165296.1:n.2097C>T
NR_165297.1:n.2097C>T

Protein change:

R703*

Links:

dbSNP: rs567573386

NCBI 1000 Genomes Browser:

rs567573386

Molecular consequence:

NR_165293.1:n.2397C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165294.1:n.2394C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165295.1:n.2225C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165296.1:n.2097C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165297.1:n.2097C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001377456.1:c.2107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_031885.5:c.2107C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000699656	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely pathogenic (Jun 22, 2017)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25988237, 25999675, 21344540 LabCorp Variant Classification Summary - May 2015.docx, Citation Link,
SCV000958736	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 11, 2024)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 21344540, 25999675, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000699656

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Likely pathogenic
(Jun 22, 2017)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

LabCorp Variant Classification Summary - May 2015.docx,

Citation Link,

SCV000958736

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 11, 2024)

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

Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome.

Kerr EN, Bhan A, Héon E.

Clin Genet. 2016 Apr;89(4):426-433. doi: 10.1111/cge.12614. Epub 2015 Jun 16.

PubMed [citation]

PMID:: 25988237

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millán JM, Munier FL, Kennedy D, Jacobson SG, Innes AM, Mitchell GA, Boycott K, Héon E.

Hum Mutat. 2011 Jun;32(6):610-9. doi: 10.1002/humu.21480. Epub 2011 Mar 22.

PubMed [citation]

PMID:: 21344540

See all PubMed Citations (4)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699656.1

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

#	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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000958736.6

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

Description

This sequence change creates a premature translational stop signal (p.Arg703*) in the BBS2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 19 amino acid(s) of the BBS2 protein. This variant is present in population databases (rs567573386, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with BBS2-related disease (PMID: 21344540, 25999675; Invitae). ClinVar contains an entry for this variant (Variation ID: 496478). 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: Nov 30, 2024

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