Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_031885.5(BBS2):c.119T>G (p.Val40Gly)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 9, 2020
Accession:
VCV001038392.1
Variation ID:
1038392
Description:
single nucleotide variant
Help

NM_031885.5(BBS2):c.119T>G (p.Val40Gly)

Allele ID
1032729
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q13
Genomic location
16: 56514679 (GRCh38) GRCh38 UCSC
16: 56548591 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.56514679A>C
NC_000016.9:g.56548591A>C
NG_009312.1:g.10605T>G
... more HGVS
Protein change
V40G
Other names
-
Canonical SPDI
NC_000016.10:56514678:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Sep 9, 2020 RCV001341690.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 09, 2020)
criteria provided, single submitter
Method: clinical testing
Bardet-Biedl syndrome
Allele origin: germline
Invitae
Accession: SCV001535573.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces valine with glycine at codon 40 of the BBS2 protein (p.Val40Gly). The valine residue is highly conserved and there is a … (more)

Functional evidence

Help
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

Help
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 08, 2021