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NM_018896.5(CACNA1G):c.1588C>T (p.Arg530Cys) AND not provided

Germline classification:
Conflicting classifications of pathogenicity (2 submissions)
Last evaluated:
Sep 17, 2022
Review status:
criteria provided, conflicting classifications
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001800085.8

Allele description [Variation Report for NM_018896.5(CACNA1G):c.1588C>T (p.Arg530Cys)]

NM_018896.5(CACNA1G):c.1588C>T (p.Arg530Cys)

Gene:
CACNA1G:calcium voltage-gated channel subunit alpha1 G [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.33
Genomic location:
Preferred name:
NM_018896.5(CACNA1G):c.1588C>T (p.Arg530Cys)
HGVS:
  • NC_000017.11:g.50575990C>T
  • NG_032024.1:g.19923C>T
  • NM_001256324.2:c.1588C>T
  • NM_001256325.2:c.1588C>T
  • NM_001256326.2:c.1588C>T
  • NM_001256327.2:c.1588C>T
  • NM_001256328.2:c.1588C>T
  • NM_001256329.2:c.1588C>T
  • NM_001256330.2:c.1588C>T
  • NM_001256331.2:c.1588C>T
  • NM_001256332.2:c.1588C>T
  • NM_001256333.2:c.1588C>T
  • NM_001256334.2:c.1588C>T
  • NM_001256359.2:c.1588C>T
  • NM_001256360.2:c.1588C>T
  • NM_001256361.2:c.1588C>T
  • NM_018896.5:c.1588C>TMANE SELECT
  • NM_198376.3:c.1588C>T
  • NM_198377.3:c.1588C>T
  • NM_198378.3:c.1588C>T
  • NM_198379.3:c.1588C>T
  • NM_198380.3:c.1588C>T
  • NM_198382.3:c.1588C>T
  • NM_198383.3:c.1588C>T
  • NM_198384.3:c.1588C>T
  • NM_198385.3:c.1588C>T
  • NM_198386.3:c.1588C>T
  • NM_198387.3:c.1588C>T
  • NM_198388.3:c.1588C>T
  • NM_198396.3:c.1588C>T
  • NP_001243253.1:p.Arg530Cys
  • NP_001243254.1:p.Arg530Cys
  • NP_001243255.1:p.Arg530Cys
  • NP_001243256.1:p.Arg530Cys
  • NP_001243257.1:p.Arg530Cys
  • NP_001243258.1:p.Arg530Cys
  • NP_001243259.1:p.Arg530Cys
  • NP_001243260.1:p.Arg530Cys
  • NP_001243261.1:p.Arg530Cys
  • NP_001243262.1:p.Arg530Cys
  • NP_001243263.1:p.Arg530Cys
  • NP_001243288.1:p.Arg530Cys
  • NP_001243289.1:p.Arg530Cys
  • NP_001243290.1:p.Arg530Cys
  • NP_061496.2:p.Arg530Cys
  • NP_938190.1:p.Arg530Cys
  • NP_938191.2:p.Arg530Cys
  • NP_938192.1:p.Arg530Cys
  • NP_938193.1:p.Arg530Cys
  • NP_938194.1:p.Arg530Cys
  • NP_938196.1:p.Arg530Cys
  • NP_938197.1:p.Arg530Cys
  • NP_938198.1:p.Arg530Cys
  • NP_938199.1:p.Arg530Cys
  • NP_938200.1:p.Arg530Cys
  • NP_938201.1:p.Arg530Cys
  • NP_938202.1:p.Arg530Cys
  • NP_938406.1:p.Arg530Cys
  • NC_000017.10:g.48653351C>T
  • NM_018896.4:c.1588C>T
  • NR_046054.2:n.2333C>T
  • NR_046055.2:n.2333C>T
  • NR_046056.2:n.2333C>T
  • NR_046057.2:n.2333C>T
  • NR_046058.2:n.2333C>T
Protein change:
R530C
Links:
dbSNP: rs776897967
NCBI 1000 Genomes Browser:
rs776897967
Molecular consequence:
  • NM_001256324.2:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256325.2:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256326.2:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256327.2:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256328.2:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256329.2:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256330.2:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256331.2:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256332.2:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256333.2:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256334.2:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256359.2:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256360.2:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256361.2:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018896.5:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198376.3:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198377.3:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198378.3:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198379.3:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198380.3:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198382.3:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198383.3:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198384.3:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198385.3:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198386.3:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198387.3:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198388.3:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198396.3:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046054.2:n.2333C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_046055.2:n.2333C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_046056.2:n.2333C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_046057.2:n.2333C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_046058.2:n.2333C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002044189GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Dec 13, 2021) 		germlineclinical testing

Citation Link,

SCV003253623Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely benign
(Sep 17, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9..

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From GeneDx, SCV002044189.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003253623.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 25, 2025