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NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jul 20, 2021)
Last evaluated:
Nov 17, 2020
Accession:
VCV000195472.6
Variation ID:
195472
Description:
single nucleotide variant
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NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=)

Allele ID
192633
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.13
Genomic location
19: 13286747 (GRCh38) GRCh38 UCSC
19: 13397561 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.9:g.13397561G>A
NM_001127221.1:c.3312C>T NP_001120693.1:p.Pro1104= synonymous
LRG_7:g.224714C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:13286746:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
1000 Genomes Project 0.00020
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00041
The Genome Aggregation Database (gnomAD) 0.00061
Trans-Omics for Precision Medicine (TOPMed) 0.00055
The Genome Aggregation Database (gnomAD), exomes 0.00046
Exome Aggregation Consortium (ExAC) 0.00051
Links
ClinGen: CA241914
dbSNP: rs374749004
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Apr 25, 2017 RCV000176048.5
Benign 1 criteria provided, single submitter Nov 17, 2020 RCV001080024.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Aug 19, 2019 RCV000723917.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CACNA1A Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1999 2037

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 19, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000227641.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Apr 25, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000612528.1
Submitted: (Aug 17, 2017)
Evidence details
Benign
(Nov 17, 2020)
criteria provided, single submitter
Method: clinical testing
Epileptic encephalopathy, early infantile, 42
Episodic ataxia type 2
Allele origin: germline
Invitae
Accession: SCV001058105.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Aug 19, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000532260.5
Submitted: (Jul 20, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CACNA1A - - - -

Text-mined citations for rs374749004...

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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 30, 2021