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NM_201596.3(CACNB2):c.208C>T (p.Arg70Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jun 28, 2018)
Last evaluated:
May 28, 2018
Accession:
VCV000545669.1
Variation ID:
545669
Description:
single nucleotide variant
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NM_201596.3(CACNB2):c.208C>T (p.Arg70Cys)

Allele ID
536165
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10p12.33
Genomic location
10: 18150970 (GRCh38) GRCh38 UCSC
10: 18439899 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.18439899C>T
NC_000010.11:g.18150970C>T
NG_016195.1:g.15294C>T
... more HGVS
Protein change
R70C, R42C
Other names
-
Canonical SPDI
NC_000010.11:18150969:C:T
Functional consequence
Uncertain function
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs760538597
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter May 28, 2018 RCV000656707.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CACNB2 - - GRCh38
GRCh37
172 483

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 28, 2018)
criteria provided, single submitter
Method: clinical testing
Autism spectrum disorder
(Autosomal recessive inheritance)
Allele origin: germline
Medical Genetics Lab, Policlinico S. Orsola.Malpighi
Accession: SCV000777892.1
Submitted: (Jun 28, 2018)
Evidence details
Comment:
The p.Arg70Cys CACNB2 variant is extremely rare in the general population and it is homozygous in this patient. No other plausible variants in candidate genes … (more)

Functional evidence

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Functional consequence Method Result Submitter Supporting information
Uncertain function
Medical Genetics Lab, Policlinico S. Orsola.Malpighi
Accession: SCV000777892.1
Submitted: (Jun 28, 2018)
Evidence details

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs760538597...

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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 02, 2021