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_024649.5(BBS1):c.46A>T (p.Ser16Cys)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 10, 2018)
Last evaluated:
Oct 1, 2018
Accession:
VCV000625444.1
Variation ID:
625444
Description:
single nucleotide variant
Help

NM_024649.5(BBS1):c.46A>T (p.Ser16Cys)

Allele ID
613750
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.2
Genomic location
11: 66510705 (GRCh38) GRCh38 UCSC
11: 66278176 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.66510705A>T
NC_000011.9:g.66278176A>T
NG_009093.1:g.5058A>T
... more HGVS
Protein change
S16C
Other names
-
Canonical SPDI
NC_000011.10:66510704:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
dbSNP: rs772917364
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Oct 1, 2018 RCV000782273.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BBS1 - - GRCh38
GRCh37
190 489

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 01, 2018)
criteria provided, single submitter
()
Method: clinical testing
Bardet-Biedl syndrome
Allele origin: germline
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP
Accession: SCV000897982.1
Submitted: (Dec 10, 2018)
Evidence details
Publications
PubMed (1)

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
Title Author Journal Year Link
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Mykytyn K Nature genetics 2002 PMID: 12118255

Text-mined citations for rs772917364...

Help
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