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NM_031885.4(BBS2):c.1190C>G (p.Thr397Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 26, 2020
Accession:
VCV000193748.2
Variation ID:
193748
Description:
single nucleotide variant
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NM_031885.4(BBS2):c.1190C>G (p.Thr397Ser)

Allele ID
190911
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q13
Genomic location
16: 56501388 (GRCh38) GRCh38 UCSC
16: 56535300 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.56501388G>C
NC_000016.9:g.56535300G>C
NG_009312.1:g.23896C>G
NM_031885.4:c.1190C>G NP_114091.3:p.Thr397Ser missense
Protein change
T397S
Other names
-
Canonical SPDI
NC_000016.10:56501387:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA239375
dbSNP: rs368138622
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 8, 2014 RCV000173907.1
Uncertain significance 1 criteria provided, single submitter Sep 26, 2020 RCV001326975.1
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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 08, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000225082.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Sep 26, 2020)
criteria provided, single submitter
Method: clinical testing
Bardet-Biedl syndrome
Allele origin: germline
Invitae
Accession: SCV001518030.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces threonine with serine at codon 397 of the BBS2 protein (p.Thr397Ser). The threonine residue is weakly 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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=BBS2 - - - -

Text-mined citations for rs368138622...

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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