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NM_001128840.3(CACNA1D):c.1220+678G>A

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
3 (Most recent: Jun 26, 2015)
Last evaluated:
Jan 14, 2015
Accession:
VCV000066072.1
Variation ID:
66072
Description:
single nucleotide variant
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NM_001128840.3(CACNA1D):c.1220+678G>A

Allele ID
76974
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.1
Genomic location
3: 53673804 (GRCh38) GRCh38 UCSC
3: 53707831 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.53707831G>A
NC_000003.12:g.53673804G>A
NM_001128840.3:c.1220+678G>A MANE Select
... more HGVS
Protein change
G403D
Other names
-
Canonical SPDI
NC_000003.12:53673803:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA144864
OMIM: 114206.0002
dbSNP: rs386834264
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 no assertion criteria provided Jan 14, 2015 RCV000056307.29
Likely pathogenic 1 no assertion criteria provided - RCV000122469.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CACNA1D - - GRCh38
GRCh37
419 430

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 01, 2013)
no assertion criteria provided
Method: literature only
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
Allele origin: germline
OMIM
Accession: SCV000087476.1
Submitted: (Oct 14, 2013)
Evidence details
Publications
PubMed (1)
probable-pathogenic
(-)
no assertion criteria provided
Method: not provided
not provided
Allele origin: germline
Richard Lifton Laboratory, Yale University School of Medicine
Accession: SCV000154977.1
Submitted: (Jun 07, 2013)
Comment:
CACNA1D
Evidence details
Comment:
Converted during submission to Likely pathogenic.
Likely pathogenic
(Jan 14, 2015)
no assertion criteria provided
Method: research
Primary aldosteronism, seizures, and neurologic abnormalities
Allele origin: de novo
Division of Human Genetics,Children's Hospital of Philadelphia
Study: CSER-PediSeq
Accession: SCV000238465.1
Submitted: (Jun 26, 2015)
Evidence details
Publications
PubMed (1)
Comment:
The variant (c.1208G>A) is likely pathogenic because it was previously reported as a de novo alteration in a patient with primary aldosteronism, seizures, and global … (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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Title Author Journal Year Link
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Scholl UI Nature genetics 2013 PMID: 23913001

Text-mined citations for rs386834264...

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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 Aug 06, 2020