NM_018896.5(CACNA1G):c.6077C>T (p.Thr2026Met) AND not provided

Germline classification:: Benign (3 submissions)
Last evaluated:: Jul 7, 2023
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:: RCV001754499.20

Allele description [Variation Report for NM_018896.5(CACNA1G):c.6077C>T (p.Thr2026Met)]

NM_018896.5(CACNA1G):c.6077C>T (p.Thr2026Met)

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.6077C>T (p.Thr2026Met)

HGVS:

NC_000017.11:g.50623923C>T
NG_032024.1:g.67856C>T
NM_001256324.2:c.5888C>T
NM_001256325.2:c.5819C>T
NM_001256326.2:c.5807C>T
NM_001256327.2:c.5777C>T
NM_001256328.2:c.5723C>T
NM_001256329.2:c.5696C>T
NM_001256330.2:c.5663C>T
NM_001256331.2:c.5642C>T
NM_001256332.2:c.5627C>T
NM_001256333.2:c.5798C>T
NM_001256334.2:c.5765C>T
NM_001256359.2:c.5717C>T
NM_001256360.2:c.5690C>T
NM_001256361.2:c.5684C>T
NM_018896.5:c.6077C>TMANE SELECT
NM_198376.3:c.5696C>T
NM_198377.3:c.6044C>T
NM_198378.3:c.5765C>T
NM_198379.3:c.5840C>T
NM_198380.3:c.5909C>T
NM_198382.3:c.5729C>T
NM_198383.3:c.5864C>T
NM_198384.3:c.5798C>T
NM_198385.3:c.5942C>T
NM_198386.3:c.5744C>T
NM_198387.3:c.5696C>T
NM_198388.3:c.5675C>T
NM_198396.3:c.5975C>T
NP_001243253.1:p.Thr1963Met
NP_001243254.1:p.Thr1940Met
NP_001243255.1:p.Thr1936Met
NP_001243256.1:p.Thr1926Met
NP_001243257.1:p.Thr1908Met
NP_001243258.1:p.Thr1899Met
NP_001243259.1:p.Thr1888Met
NP_001243260.1:p.Thr1881Met
NP_001243261.1:p.Thr1876Met
NP_001243262.1:p.Thr1933Met
NP_001243263.1:p.Thr1922Met
NP_001243288.1:p.Thr1906Met
NP_001243289.1:p.Thr1897Met
NP_001243290.1:p.Thr1895Met
NP_061496.2:p.Thr2026Met
NP_938190.1:p.Thr1899Met
NP_938191.2:p.Thr2015Met
NP_938192.1:p.Thr1922Met
NP_938193.1:p.Thr1947Met
NP_938194.1:p.Thr1970Met
NP_938196.1:p.Thr1910Met
NP_938197.1:p.Thr1955Met
NP_938198.1:p.Thr1933Met
NP_938199.1:p.Thr1981Met
NP_938200.1:p.Thr1915Met
NP_938201.1:p.Thr1899Met
NP_938202.1:p.Thr1892Met
NP_938406.1:p.Thr1992Met
NC_000017.10:g.48701284C>T
NM_018896.4:c.6077C>T
NR_046054.2:n.6494C>T
NR_046055.2:n.6461C>T
NR_046056.2:n.6440C>T
NR_046057.2:n.6425C>T
NR_046058.2:n.6371C>T

Protein change:

T1876M

Links:

dbSNP: rs375919039

NCBI 1000 Genomes Browser:

rs375919039

Molecular consequence:

NM_001256324.2:c.5888C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001256325.2:c.5819C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001256326.2:c.5807C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001256327.2:c.5777C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001256328.2:c.5723C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001256329.2:c.5696C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001256330.2:c.5663C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001256331.2:c.5642C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001256332.2:c.5627C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001256333.2:c.5798C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001256334.2:c.5765C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001256359.2:c.5717C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001256360.2:c.5690C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001256361.2:c.5684C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_018896.5:c.6077C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198376.3:c.5696C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198377.3:c.6044C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198378.3:c.5765C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198379.3:c.5840C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198380.3:c.5909C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198382.3:c.5729C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198383.3:c.5864C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198384.3:c.5798C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198385.3:c.5942C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198386.3:c.5744C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198387.3:c.5696C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198388.3:c.5675C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198396.3:c.5975C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_046054.2:n.6494C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_046055.2:n.6461C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_046056.2:n.6440C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_046057.2:n.6425C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_046058.2:n.6371C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV001985940	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Oct 11, 2021)	germline	clinical testing	Citation Link,
SCV003513915	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jul 7, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004145680	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Jun 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001985940

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Oct 11, 2021)

germline

clinical testing

Citation Link,

SCV003513915

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jul 7, 2023)

germline

clinical testing

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

SCV004145680

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Benign
(Jun 1, 2023)

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
not provided	germline	yes	1	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 GeneDx, SCV001985940.2

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003513915.3

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV004145680.14

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

Description

CACNA1G: BS1, BS2

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

Last Updated: May 25, 2025

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