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NM_152384.3(BBS5):c.522+3A>G AND Bardet-Biedl syndrome 5

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 14, 2004
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000006532.4

Allele description [Variation Report for NM_152384.3(BBS5):c.522+3A>G]

NM_152384.3(BBS5):c.522+3A>G

Gene:
BBS5:Bardet-Biedl syndrome 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.1
Genomic location:
Preferred name:
NM_152384.3(BBS5):c.522+3A>G
HGVS:
  • NC_000002.12:g.169493012A>G
  • NG_011567.1:g.18517A>G
  • NM_152384.3:c.522+3A>GMANE SELECT
  • NC_000002.11:g.170349522A>G
  • NM_152384.2:c.522+3A>G
Nucleotide change:
IVS6DS, A-G, +3
Links:
OMIM: 603650.0001; dbSNP: rs587777828
NCBI 1000 Genomes Browser:
rs587777828
Molecular consequence:
  • NM_152384.3:c.522+3A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Bardet-Biedl syndrome 5 (BBS5)
Identifiers:
MONDO: MONDO:0014434; MedGen: C3892039; Orphanet: 110; OMIM: 615983

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000026715OMIM
no assertion criteria provided
Pathogenic
(May 14, 2004)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.

Li JB, Gerdes JM, Haycraft CJ, Fan Y, Teslovich TM, May-Simera H, Li H, Blacque OE, Li L, Leitch CC, Lewis RA, Green JS, Parfrey PS, Leroux MR, Davidson WS, Beales PL, Guay-Woodford LM, Yoder BK, Stormo GD, Katsanis N, Dutcher SK.

Cell. 2004 May 14;117(4):541-52.

PubMed [citation]
PMID:
15137946

Details of each submission

From OMIM, SCV000026715.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Li et al. (2004) found that patients with Bardet-Biedl syndrome (BBS5; 615983) from a Newfoundland family (NFB9) that defined the BBS5 locus were homozygous for an A-to-G transition at the +3 position of the exon 6 splice donor site in the BBS5 gene. The 2 available affected individuals were homozygous G/G, both parents were heterozygous A/G, and 4 unaffected sibs were either homozygous A/A or heterozygous A/G. Because this allele segregated with the disease and was absent from 100 Newfoundland control chromosomes, its effect in a lymphoblastoid cell line from one of the NFB9 patients was investigated. In contrast to the 2 BBS5 splice variants produced in a control cell line, patient NFB9 produced 3 variants, all of which resulted in a frameshift and premature termination in exon 7.

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

Last Updated: Nov 19, 2022