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NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter) AND Bardet-Biedl syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 2, 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:
RCV000802962.4

Allele description [Variation Report for NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)]

NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)

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.1780C>T (p.Arg594Ter)
HGVS:
  • NC_000016.10:g.56497760G>A
  • NG_009312.2:g.27265C>T
  • NM_001377456.1:c.1780C>T
  • NM_031885.5:c.1780C>TMANE SELECT
  • NP_001364385.1:p.Arg594Ter
  • NP_114091.4:p.Arg594Ter
  • NC_000016.9:g.56531672G>A
  • NG_009312.1:g.27524C>T
  • NM_031885.3:c.1780C>T
  • NR_165293.1:n.2070C>T
  • NR_165294.1:n.2067C>T
  • NR_165295.1:n.1898C>T
  • NR_165296.1:n.1770C>T
  • NR_165297.1:n.1770C>T
Protein change:
R594*
Links:
dbSNP: rs762047808
NCBI 1000 Genomes Browser:
rs762047808
Molecular consequence:
  • NR_165293.1:n.2070C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165294.1:n.2067C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165295.1:n.1898C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165296.1:n.1770C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165297.1:n.1770C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001377456.1:c.1780C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_031885.5:c.1780C>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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000942813Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Dec 2, 2023)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC.

Hum Mol Genet. 2001 Apr 1;10(8):865-74.

PubMed [citation]
PMID:
11285252

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, Hellé S, Marion V, Bennouna-Greene V, Vicaire S, Megarbane A, Kaplan J, Drouin-Garraud V, Hamdani M, Sigaudy S, Francannet C, Roume J, Bitoun P, Goldenberg A, Philip N, Odent S, Green J, et al.

Hum Genet. 2010 Mar;127(5):583-93. doi: 10.1007/s00439-010-0804-9. Epub 2010 Feb 23.

PubMed [citation]
PMID:
20177705
PMCID:
PMC3638942
See all PubMed Citations (6)

Details of each submission

From Invitae, SCV000942813.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This sequence change creates a premature translational stop signal (p.Arg594*) in the BBS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252, 20177705, 24608809, 26518167). This variant is present in population databases (rs762047808, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 27032803). ClinVar contains an entry for this variant (Variation ID: 550489). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024