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NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Sep 30, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000387224.6
Variation ID:
387224
Description:
single nucleotide variant
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NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=)

Allele ID
376261
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.13
Genomic location
19: 13286525 (GRCh38) GRCh38 UCSC
19: 13397339 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.9:g.13397339G>C
NM_001127221.1:c.3534C>G NP_001120693.1:p.Pro1178= synonymous
NC_000019.10:g.13286525G>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:13286524:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (C)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00022
1000 Genomes Project 0.00080
Links
ClinGen: CA9240295
dbSNP: rs184723350
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 Dec 4, 2020 RCV001089018.2
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Jul 8, 2019 RCV000727896.5
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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
2001 2040

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 14, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000855402.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Dec 26, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001143328.1
Submitted: (Sep 25, 2019)
Evidence details
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Allele origin: germline
Invitae
Accession: SCV001020687.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jul 08, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000529157.5
Submitted: (Sep 30, 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 rs184723350...

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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 Nov 27, 2021