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NM_172364.4(CACNA2D4):c.1882C>T (p.Arg628Ter)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Aug 18, 2017)
Last evaluated:
Oct 17, 2014
Accession:
VCV000208566.1
Variation ID:
208566
Description:
single nucleotide variant
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NM_172364.4(CACNA2D4):c.1882C>T (p.Arg628Ter)

Allele ID
205170
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.33
Genomic location
12: 1860203 (GRCh38) GRCh38 UCSC
12: 1969369 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.12:g.1860203G>A
NC_000012.11:g.1969369G>A
NM_172364.4:c.1882C>T NP_758952.4:p.Arg628Ter nonsense
NG_012663.1:g.63502C>T
Protein change
R628*
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (A)

Allele frequency
1000 Genomes Project 0.00040
Exome Aggregation Consortium (ExAC) 0.00057
Trans-Omics for Precision Medicine (TOPMed) 0.00036
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00049
The Genome Aggregation Database (gnomAD) 0.00013
The Genome Aggregation Database (gnomAD), exomes 0.00080
Links
OMIM: 608171.0002
dbSNP: rs200098356
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Oct 17, 2014 RCV000190570.2
Likely pathogenic 1 no assertion criteria provided Jan 1, 2015 RCV000505096.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CACNA2D4 - - GRCh38
GRCh38
GRCh37
143 205

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 17, 2014)
criteria provided, single submitter
Method: clinical testing
Retinal cone dystrophy 4
Allele origin: germline
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
Study: CSER-MedSeq
Accession: SCV000245586.1
Submitted: (Aug 18, 2015)
Evidence details
Publications
PubMed (1)
Comment:
The p.Arg628X variant in CACNA2D4 has not been previously reported in individuals with disease but has been identified in 0.06% (5/8296) of European American chromosomes ... (more)
Pathogenic
(Jan 27, 2017)
no assertion criteria provided
Method: literature only
RETINAL CONE DYSTROPHY 4
Allele origin: germline
OMIM
Accession: SCV000494079.1
Submitted: (Jan 27, 2017)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Jan 01, 2015)
no assertion criteria provided
Method: research
Abnormality of the eye
Allele origin: unknown
NIHR Bioresource Rare Diseases,University of Cambridge
Accession: SCV000599077.1
Submitted: (Aug 18, 2017)
Evidence details
Publications
PubMed (1)
Comment:
Undetermined rare ocular disorder with frequency of less than eight patients

Citations for this variant

Title Author Journal Year Link
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. Carss KJ American journal of human genetics 2017 PMID: 28041643
Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans. Ba-Abbad R Ophthalmology 2016 PMID: 26560832
Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. Wycisk KA American journal of human genetics 2006 PMID: 17033974

Record last updated Jun 17, 2019