NM_031885.5(BBS2):c.118-1G>C AND Bardet-Biedl syndrome 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 21, 2001
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:: RCV000004841.6

Allele description [Variation Report for NM_031885.5(BBS2):c.118-1G>C]

NM_031885.5(BBS2):c.118-1G>C

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.118-1G>C

HGVS:

NC_000016.10:g.56514681C>G
NG_009312.2:g.10344G>C
NM_001377456.1:c.118-1G>C
NM_031885.5:c.118-1G>CMANE SELECT
NC_000016.9:g.56548593C>G
NM_031885.3:c.118-1G>C

Nucleotide change:

IVS1AS, G-C, -1

Links:

OMIM: 606151.0011; dbSNP: rs587777825

NCBI 1000 Genomes Browser:

rs587777825

Molecular consequence:

NM_001377456.1:c.118-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_031885.5:c.118-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Bardet-Biedl syndrome 2 (BBS2)
Identifiers:: MONDO: MONDO:0014432; MedGen: C2936863; Orphanet: 110; OMIM: 615981

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000025017	OMIM	no assertion criteria provided	Pathogenic (Sep 21, 2001)	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

SCV000025017

OMIM

no assertion criteria provided

Pathogenic
(Sep 21, 2001)

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

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, Scambler PJ, Davidson WS, Beales PL, Lupski JR.

Science. 2001 Sep 21;293(5538):2256-9.

PubMed [citation]

PMID:: 11567139

Details of each submission

From OMIM, SCV000025017.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a patient (PB045) with Bardet-Biedl syndrome (see BBS2, 615981) genetically excluded from the BBS2 locus, Katsanis et al. (2001) nevertheless identified one BBS2 mutation, a G-to-C substitution at the splice acceptor site of intron 1.

#	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: Jun 10, 2023

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