NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) AND not provided

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Dec 5, 2019
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000171619.19

Allele description [Variation Report for NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg)]

NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg)

Genes:

CACNA1C-AS1:CACNA1C antisense RNA 1 [Gene - HGNC]
CACNA1C:calcium voltage-gated channel subunit alpha1 C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.33

Genomic location:

Preferred name:

NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg)

HGVS:

NC_000012.12:g.2686216G>C
NG_008801.2:g.720431G>C
NM_000719.7:c.5731G>CMANE SELECT
NM_001129827.2:c.5875G>C
NM_001129829.2:c.5854G>C
NM_001129830.3:c.5836G>C
NM_001129831.2:c.5815G>C
NM_001129832.2:c.5791G>C
NM_001129833.2:c.5788G>C
NM_001129834.2:c.5788G>C
NM_001129835.2:c.5788G>C
NM_001129836.2:c.5782G>C
NM_001129837.2:c.5755G>C
NM_001129838.2:c.5755G>C
NM_001129839.2:c.5749G>C
NM_001129840.2:c.5731G>C
NM_001129841.2:c.5731G>C
NM_001129842.2:c.5731G>C
NM_001129843.2:c.5731G>C
NM_001129844.2:c.5722G>C
NM_001129846.2:c.5698G>C
NM_001167623.2:c.5731G>C
NM_001167624.3:c.5836G>C
NM_001167625.2:c.5911G>C
NM_199460.4:c.5980G>C
NP_000710.5:p.Gly1911Arg
NP_001123299.1:p.Gly1959Arg
NP_001123301.1:p.Gly1952Arg
NP_001123302.2:p.Gly1946Arg
NP_001123303.1:p.Gly1939Arg
NP_001123304.1:p.Gly1931Arg
NP_001123305.1:p.Gly1930Arg
NP_001123306.1:p.Gly1930Arg
NP_001123307.1:p.Gly1930Arg
NP_001123308.1:p.Gly1928Arg
NP_001123309.1:p.Gly1919Arg
NP_001123310.1:p.Gly1919Arg
NP_001123311.1:p.Gly1917Arg
NP_001123312.1:p.Gly1911Arg
NP_001123313.1:p.Gly1911Arg
NP_001123314.1:p.Gly1911Arg
NP_001123315.1:p.Gly1911Arg
NP_001123316.1:p.Gly1908Arg
NP_001123318.1:p.Gly1900Arg
NP_001161095.1:p.Gly1911Arg
NP_001161096.2:p.Gly1946Arg
NP_001161097.1:p.Gly1971Arg
NP_955630.3:p.Gly1994Arg
LRG_334t1:c.5731G>C
LRG_334:g.720431G>C
NC_000012.11:g.2795382G>C
NM_000719.6:c.5731G>C

Protein change:

G1900R

Links:

dbSNP: rs374528680

NCBI 1000 Genomes Browser:

rs374528680

Molecular consequence:

NM_000719.7:c.5731G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001129827.2:c.5875G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001129829.2:c.5854G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001129830.3:c.5836G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001129831.2:c.5815G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001129832.2:c.5791G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001129833.2:c.5788G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001129834.2:c.5788G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001129835.2:c.5788G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001129836.2:c.5782G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001129837.2:c.5755G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001129838.2:c.5755G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001129839.2:c.5749G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001129840.2:c.5731G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001129841.2:c.5731G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001129842.2:c.5731G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001129843.2:c.5731G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001129844.2:c.5722G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001129846.2:c.5698G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001167623.2:c.5731G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001167624.3:c.5836G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001167625.2:c.5911G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_199460.4:c.5980G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000055190	Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq	criteria provided, single submitter (Ng et al. (Circ Cardiovasc Genet. 2013))	Uncertain significance (Jun 24, 2013)	unknown	research	PubMed (1) [See all records that cite this PMID]
SCV000230669	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Feb 2, 2015)	germline	clinical testing	Citation Link,
SCV003830333	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 5, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000055190

Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq

criteria provided, single submitter

(Ng et al. (Circ Cardiovasc Genet. 2013))

Uncertain significance
(Jun 24, 2013)

unknown

research

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

SCV000230669

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Feb 2, 2015)

germline

clinical testing

Citation Link,

SCV003830333

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 5, 2019)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	1	not provided	not provided	not provided	not provided	research
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]

PMID:: 23861362
PMCID:: PMC3887521

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq, SCV000055190.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

From Eurofins Ntd Llc (ga), SCV000230669.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV003830333.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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