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NM_001080522.2(CC2D2A):c.3850C>T (p.Arg1284Cys)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: May 26, 2020)
Last evaluated:
Feb 23, 2015
Accession:
VCV000217597.2
Variation ID:
217597
Description:
single nucleotide variant
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NM_001080522.2(CC2D2A):c.3850C>T (p.Arg1284Cys)

Allele ID
214185
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p15.32
Genomic location
4: 15580046 (GRCh38) GRCh38 UCSC
4: 15581669 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_697:g.115181C>T
NC_000004.11:g.15581669C>T
NC_000004.12:g.15580046C>T
... more HGVS
Protein change
R1284C
Other names
-
Canonical SPDI
NC_000004.12:15580045:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA210258
UniProtKB: Q9P2K1#VAR_076888
dbSNP: rs779823379
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Feb 23, 2015 RCV000201552.1
Likely pathogenic 1 criteria provided, single submitter - RCV001261604.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CC2D2A - - GRCh38
GRCh37
818 864

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 23, 2015)
criteria provided, single submitter
Method: research
Joubert syndrome 9
Allele origin: unknown
UW Hindbrain Malformation Research Program,University of Washington
Additional submitter:
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV000256337.1
Submitted: (Sep 16, 2015)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Meckel syndrome type 6
Allele origin: germline
Pathology and Clinical Laboratory Medicine,King Fahad Medical City
Accession: SCV001438887.1
Submitted: (May 26, 2020)
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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Title Author Journal Year Link
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. Bachmann-Gagescu R Journal of medical genetics 2015 PMID: 26092869

Text-mined citations for rs779823379...

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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