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NM_031885.5(BBS2):c.613-54C>G

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 27, 2021)
Last evaluated:
Jun 10, 2021
Accession:
VCV001172737.2
Variation ID:
1172737
Description:
single nucleotide variant
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NM_031885.5(BBS2):c.613-54C>G

Allele ID
1161927
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q13
Genomic location
16: 56506278 (GRCh38) GRCh38 UCSC
16: 56540190 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.56506278G>C
NC_000016.9:g.56540190G>C
NG_009312.1:g.19006C>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:56506277:G:C
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
Benign 1 criteria provided, single submitter Jun 10, 2021 RCV001526783.1
Benign 1 criteria provided, single submitter Jun 10, 2021 RCV001526784.1
Benign 1 criteria provided, single submitter May 10, 2021 RCV001712945.1
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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
Benign
(Jun 10, 2021)
criteria provided, single submitter
Method: clinical testing
Bardet-Biedl syndrome 2
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001737389.1
Submitted: (Jun 16, 2021)
Evidence details
Benign
(Jun 10, 2021)
criteria provided, single submitter
Method: clinical testing
Retinitis pigmentosa 74
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001737390.1
Submitted: (Jun 16, 2021)
Evidence details
Benign
(May 10, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001942094.1
Submitted: (Sep 27, 2021)
Evidence details

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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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 02, 2021