NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) AND Long QT syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 19, 2024
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:: RCV000226828.17

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]

Condition(s)

Name:: Long QT syndrome (LQTS)
Identifiers:: MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976

Recent activity

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5424[Gene ID] (4996)
ClinVar
GPM6B[gene] (188)
ClinVar
Salmonella sp. SM155, whole genome shotgun sequencing project
Salmonella sp. SM155, whole genome shotgun sequencing project
gi|2508187608|gb|JASHLW000000000.1| W010000000

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000285599	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 19, 2024)	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

SCV000285599

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 19, 2024)

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Labcorp Genetics (formerly Invitae), Labcorp, SCV000285599.10

#	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 10, 2024

ClinVar

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