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NM_024649.5(BBS1):c.1205T>C (p.Leu402Pro)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 14, 2020)
Accession:
VCV000988658.1
Variation ID:
988658
Description:
single nucleotide variant
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NM_024649.5(BBS1):c.1205T>C (p.Leu402Pro)

Allele ID
976587
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.2
Genomic location
11: 66526673 (GRCh38) GRCh38 UCSC
11: 66294144 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.66526673T>C
NC_000011.9:g.66294144T>C
NM_024649.5:c.1205T>C MANE Select NP_078925.3:p.Leu402Pro missense
... more HGVS
Protein change
L402P
Other names
-
Canonical SPDI
NC_000011.10:66526672:T: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
Likely pathogenic 1 criteria provided, single submitter - RCV001270354.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BBS1 - - GRCh38
GRCh37
190 489
ZDHHC24 - - - GRCh38
GRCh37
- 299

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Department of Genetics,Fundacion Jimenez Diaz University Hospital
Accession: SCV001450580.1
Submitted: (Dec 14, 2020)
Evidence details
Comment:
The variant is present in population databases (gnomAD_exomes 0.004%). Is a missense variant in a gene that has a low rate of benign missense variation … (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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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 Dec 16, 2020