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NM_031885.5(BBS2):c.1673C>T (p.Thr558Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 1, 2020
Accession:
VCV001044521.1
Variation ID:
1044521
Description:
single nucleotide variant
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NM_031885.5(BBS2):c.1673C>T (p.Thr558Ile)

Allele ID
1032723
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q13
Genomic location
16: 56497867 (GRCh38) GRCh38 UCSC
16: 56531779 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.56497867G>A
NC_000016.9:g.56531779G>A
NG_009312.1:g.27417C>T
... more HGVS
Protein change
T558I
Other names
-
Canonical SPDI
NC_000016.10:56497866:G:A
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 Oct 1, 2020 RCV001348771.1
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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
457 478

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 01, 2020)
criteria provided, single submitter
Method: clinical testing
Bardet-Biedl syndrome
Allele origin: germline
Invitae
Accession: SCV001543086.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces threonine with isoleucine at codon 558 of the BBS2 protein (p.Thr558Ile). The threonine residue is highly 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
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. Zaghloul NA Proceedings of the National Academy of Sciences of the United States of America 2010 PMID: 20498079
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Katsanis N American journal of human genetics 2002 PMID: 12016587

Record last updated Oct 08, 2021