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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026715	OMIM	no assertion criteria provided	Pathogenic (May 14, 2004)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000026715

OMIM

no assertion criteria provided

Pathogenic
(May 14, 2004)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 19, 2022

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