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

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 6, 2021
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:: RCV002492702.1

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:: Timothy syndrome (TS)
Synonyms:: Long QT syndrome with syndactyly
Identifiers:: MONDO: MONDO:0010979; MeSH: C536962; MedGen: C1832916; OMIM: 601005

Name:: Brugada syndrome 3 (BRGDA3)
Identifiers:: MONDO: MONDO:0012742; MedGen: C2678478; Orphanet: 130; OMIM: 611875

Name:: Long qt syndrome 8
Identifiers:: MONDO: MONDO:0032756; MedGen: CN260585; OMIM: 618447

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002797581	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 6, 2021)	unknown	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

SCV002797581

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 6, 2021)

unknown

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Fulgent Genetics, Fulgent Genetics, SCV002797581.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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