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

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 23, 2020
Accession:
VCV000004580.2
Variation ID:
4580
Description:
1bp deletion
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NM_031885.3(BBS2):c.472del (p.Val158Leufs)

Allele ID
19619
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
16q13
Genomic location
16: 56510921 (GRCh38) GRCh38 UCSC
16: 56544833 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.56510922del
NC_000016.9:g.56544834del
NG_009312.1:g.14363del
NG_009312.2:g.14104del
Protein change
-
Other names
BBS2, VAL158FS, TER200
Canonical SPDI
NC_000016.10:56510920:CC:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA116934
OMIM: 606151.0012
dbSNP: rs587777826
VarSome
Comment on variant
NCBI staff reviewed the sequence information reported in PubMed 11567139 Fig. 1 to determine the location of this allele on the current reference sequence.
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jul 23, 2020 RCV001390312.1
Pathogenic 1 no assertion criteria provided Sep 21, 2001 RCV000004842.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BBS2 - - GRCh38
GRCh37
457 478

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 23, 2020)
criteria provided, single submitter
Method: clinical testing
Bardet-Biedl syndrome
Allele origin: germline
Invitae
Accession: SCV001591996.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change creates a premature translational stop signal (p.Val158Leufs*43) in the BBS2 gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Sep 21, 2001)
no assertion criteria provided
Method: literature only
BARDET-BIEDL SYNDROME 1/2, DIGENIC
Allele origin: germline
OMIM
Accession: SCV000025018.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
- - - - PMID: 11285252
- - - - PMID: 11567139
- - - - PMID: 20177705
- - - - PMID: 24608809
- - - - PMID: 26518167

Text-mined citations for rs587777826...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021