NM_000719.7(CACNA1C):c.5026GAG[2] (p.Glu1678del) AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 18, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV004020033.1

Allele description [Variation Report for NM_000719.7(CACNA1C):c.5026GAG[2] (p.Glu1678del)]

NM_000719.7(CACNA1C):c.5026GAG[2] (p.Glu1678del)

Genes:

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

Variant type:

Microsatellite

Cytogenetic location:

12p13.33

Genomic location:

Preferred name:

NM_000719.7(CACNA1C):c.5026GAG[2] (p.Glu1678del)

HGVS:

NC_000012.12:g.2677802GAG[2]
NG_008801.2:g.712017GAG[2]
NM_000719.7:c.5026GAG[2]MANE SELECT
NM_001129827.2:c.5170GAG[2]
NM_001129829.2:c.5149GAG[2]
NM_001129830.3:c.5026GAG[2]
NM_001129831.2:c.5110GAG[2]
NM_001129832.2:c.5086GAG[2]
NM_001129833.2:c.5083GAG[2]
NM_001129834.2:c.5083GAG[2]
NM_001129835.2:c.5083GAG[2]
NM_001129836.2:c.5077GAG[2]
NM_001129837.2:c.5050GAG[2]
NM_001129838.2:c.5050GAG[2]
NM_001129839.2:c.5044GAG[2]
NM_001129840.2:c.5026GAG[2]
NM_001129841.2:c.5026GAG[2]
NM_001129842.2:c.5026GAG[2]
NM_001129843.2:c.5026GAG[2]
NM_001129844.2:c.5017GAG[2]
NM_001129846.2:c.4993GAG[2]
NM_001167623.2:c.5026GAG[2]
NM_001167624.3:c.5026GAG[2]
NM_001167625.2:c.4993GAG[2]
NM_199460.4:c.5170GAG[2]
NP_000710.5:p.Glu1678del
NP_001123299.1:p.Glu1726del
NP_001123301.1:p.Glu1719del
NP_001123302.2:p.Glu1678del
NP_001123303.1:p.Glu1706del
NP_001123304.1:p.Glu1698del
NP_001123305.1:p.Glu1697del
NP_001123306.1:p.Glu1697del
NP_001123307.1:p.Glu1697del
NP_001123308.1:p.Glu1695del
NP_001123309.1:p.Glu1686del
NP_001123310.1:p.Glu1686del
NP_001123311.1:p.Glu1684del
NP_001123312.1:p.Glu1678del
NP_001123313.1:p.Glu1678del
NP_001123314.1:p.Glu1678del
NP_001123315.1:p.Glu1678del
NP_001123316.1:p.Glu1675del
NP_001123318.1:p.Glu1667del
NP_001161095.1:p.Glu1678del
NP_001161096.2:p.Glu1678del
NP_001161097.1:p.Glu1667del
NP_955630.3:p.Glu1726del
LRG_334t1:c.5032_5034del
LRG_334:g.712017GAG[2]
NC_000012.11:g.2786968GAG[2]
NC_000012.11:g.2786968_2786970del
NM_000719.6:c.5032_5034del
NM_000719.6:c.5032_5034delGAG
NR_045725.1:n.421CTC[2]
p.E1678del

Protein change:

E1667del

Links:

dbSNP: rs786205773

NCBI 1000 Genomes Browser:

rs786205773

Molecular consequence:

NM_000719.7:c.5026GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001129827.2:c.5170GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001129829.2:c.5149GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001129830.3:c.5026GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001129831.2:c.5110GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001129832.2:c.5086GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001129833.2:c.5083GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001129834.2:c.5083GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001129835.2:c.5083GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001129836.2:c.5077GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001129837.2:c.5050GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001129838.2:c.5050GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001129839.2:c.5044GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001129840.2:c.5026GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001129841.2:c.5026GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001129842.2:c.5026GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001129843.2:c.5026GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001129844.2:c.5017GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001129846.2:c.4993GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001167623.2:c.5026GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001167624.3:c.5026GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001167625.2:c.4993GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_199460.4:c.5170GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_045725.1:n.421CTC[2] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003531553	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Feb 18, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003531553

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Feb 18, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003531553.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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 24, 2024

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