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NM_031885.5(BBS2):c.1011G>A (p.Leu337=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 22, 2019
Accession:
VCV001102406.1
Variation ID:
1102406
Description:
single nucleotide variant
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NM_031885.5(BBS2):c.1011G>A (p.Leu337=)

Allele ID
1103959
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q13
Genomic location
16: 56502386 (GRCh38) GRCh38 UCSC
16: 56536298 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.56502386C>T
NC_000016.9:g.56536298C>T
NG_009312.1:g.22898G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:56502385:C:T
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
Likely benign 1 criteria provided, single submitter Dec 22, 2019 RCV001425726.1
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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
Likely benign
(Dec 22, 2019)
criteria provided, single submitter
Method: clinical testing
Bardet-Biedl syndrome
Allele origin: germline
Invitae
Accession: SCV001628363.1
Submitted: (Jan 07, 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 08, 2021