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NM_031885.5(BBS2):c.68G>C (p.Arg23Pro)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 6, 2020)
Last evaluated:
Jun 25, 2019
Accession:
VCV000950150.1
Variation ID:
950150
Description:
single nucleotide variant
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NM_031885.5(BBS2):c.68G>C (p.Arg23Pro)

Allele ID
927865
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q13
Genomic location
16: 56519795 (GRCh38) GRCh38 UCSC
16: 56553707 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.56519795C>G
NC_000016.9:g.56553707C>G
NG_009312.1:g.5489G>C
... more HGVS
Protein change
R23P
Other names
-
Canonical SPDI
NC_000016.10:56519794:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 25, 2019 RCV001221796.1
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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
456 477

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 25, 2019)
criteria provided, single submitter
Method: clinical testing
Bardet-Biedl syndrome
Allele origin: germline
Invitae
Accession: SCV001393858.1
Submitted: (Feb 06, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with proline at codon 23 of the BBS2 protein (p.Arg23Pro). The arginine residue is moderately conserved and there is a … (more)

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
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Karmous-Benailly H American journal of human genetics 2005 PMID: 15666242

Record last updated Oct 08, 2021