NM_031885.3(BBS2):c.472del (p.Val158Leufs) AND Bardet-biedl syndrome 1/2, digenic

Clinical significance:Pathogenic (Last evaluated: Sep 21, 2001)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000004842.4

Allele description [Variation Report for NM_031885.3(BBS2):c.472del (p.Val158Leufs)]

NM_031885.3(BBS2):c.472del (p.Val158Leufs)

Gene:
BBS2:Bardet-Biedl syndrome 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16q13
Genomic location:
Preferred name:
NM_031885.3(BBS2):c.472del (p.Val158Leufs)
Other names:
BBS2, VAL158FS, TER200
HGVS:
  • NC_000016.10:g.56510922del
  • NG_009312.1:g.14363del
  • NG_009312.2:g.14104del
  • NC_000016.9:g.56544833del
  • NC_000016.9:g.56544834del
  • NM_031885.3:c.472del
Note:
NCBI staff reviewed the sequence information reported in PubMed 11567139 Fig. 1 to determine the location of this allele on the current reference sequence.
Links:
OMIM: 606151.0012; dbSNP: rs587777826
NCBI 1000 Genomes Browser:
rs587777826

Condition(s)

Name:
Bardet-biedl syndrome 1/2, digenic
Identifiers:
MedGen: C4016957

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000025018OMIMno assertion criteria providedPathogenic
(Sep 21, 2001)
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

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, SCV000025018.3

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

Description

In a patient with Bardet-Biedl syndrome (BBS2; 615981) linked to the BBS1 locus (209901), Katsanis et al. (2001) found a third mutation in BBS2: a frameshift mutation at codon 158, resulting in a premature termination codon at residue 200.

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

Last Updated: Oct 24, 2021

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