NM_201596.3(CACNB2):c.359G>A (p.Arg120Gln) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Aug 20, 2021
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:: RCV000171623.2

Allele description [Variation Report for NM_201596.3(CACNB2):c.359G>A (p.Arg120Gln)]

NM_201596.3(CACNB2):c.359G>A (p.Arg120Gln)

Gene:

CACNB2:calcium voltage-gated channel auxiliary subunit beta 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p12.31

Genomic location:

Preferred name:

NM_201596.3(CACNB2):c.359G>A (p.Arg120Gln)

HGVS:

NC_000010.11:g.18498380G>A
NG_016195.1:g.362704G>A
NM_000724.4:c.194G>A
NM_001167945.2:c.275G>A
NM_001330060.2:c.194G>A
NM_201570.3:c.215G>A
NM_201571.4:c.275G>A
NM_201572.4:c.275G>A
NM_201590.3:c.197G>A
NM_201593.3:c.359G>A
NM_201596.3:c.359G>AMANE SELECT
NM_201597.3:c.359G>A
NP_000715.2:p.Arg65Gln
NP_001161417.1:p.Arg92Gln
NP_001316989.1:p.Arg65Gln
NP_963864.1:p.Arg72Gln
NP_963865.2:p.Arg92Gln
NP_963866.2:p.Arg92Gln
NP_963884.2:p.Arg66Gln
NP_963887.2:p.Arg120Gln
NP_963890.2:p.Arg120Gln
NP_963891.1:p.Arg120Gln
LRG_381t1:c.359G>A
LRG_381t2:c.197G>A
LRG_381:g.362704G>A
LRG_381p1:p.Arg120Gln
LRG_381p2:p.Arg66Gln
NC_000010.10:g.18787309G>A
NM_201590.2:c.197G>A

Protein change:

R120Q

Links:

dbSNP: rs202220375

NCBI 1000 Genomes Browser:

rs202220375

Molecular consequence:

NM_000724.4:c.194G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001167945.2:c.275G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001330060.2:c.194G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201570.3:c.215G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201571.4:c.275G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201572.4:c.275G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201590.3:c.197G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201593.3:c.359G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201596.3:c.359G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201597.3:c.359G>A - 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
SCV000050657	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]
SCV002501911	AiLife Diagnostics, AiLife Diagnostics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 20, 2021)	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

SCV000050657

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]

SCV002501911

AiLife Diagnostics, AiLife Diagnostics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 20, 2021)

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	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	1	not provided	not provided	not provided	not provided	research

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, SCV000050657.1

#	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 AiLife Diagnostics, AiLife Diagnostics, SCV002501911.1

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

Last Updated: Feb 28, 2024

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