NM_201596.3(CACNB2):c.1619A>G (p.Asn540Ser) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 19, 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:: RCV002394725.2

Allele description [Variation Report for NM_201596.3(CACNB2):c.1619A>G (p.Asn540Ser)]

NM_201596.3(CACNB2):c.1619A>G (p.Asn540Ser)

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.1619A>G (p.Asn540Ser)

HGVS:

NC_000010.11:g.18539360A>G
NG_016195.1:g.403684A>G
NM_000724.4:c.1454A>G
NM_001167945.2:c.1421A>G
NM_001330060.2:c.1340A>G
NM_001410882.1:c.1361A>G
NM_201570.3:c.1475A>G
NM_201571.4:c.1535A>G
NM_201572.4:c.1463A>G
NM_201590.3:c.1457A>G
NM_201593.3:c.1505A>G
NM_201596.3:c.1619A>GMANE SELECT
NM_201597.3:c.1547A>G
NP_000715.2:p.Asn485Ser
NP_001161417.1:p.Asn474Ser
NP_001316989.1:p.Asn447Ser
NP_001397811.1:p.Asn454Ser
NP_963864.1:p.Asn492Ser
NP_963865.2:p.Asn512Ser
NP_963866.2:p.Asn488Ser
NP_963884.2:p.Asn486Ser
NP_963887.2:p.Asn502Ser
NP_963890.2:p.Asn540Ser
NP_963891.1:p.Asn516Ser
LRG_381t1:c.1619A>G
LRG_381t2:c.1457A>G
LRG_381:g.403684A>G
LRG_381p1:p.Asn540Ser
LRG_381p2:p.Asn486Ser
NC_000010.10:g.18828289A>G
NM_201590.2:c.1457A>G

Protein change:

N447S

Molecular consequence:

NM_000724.4:c.1454A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001167945.2:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330060.2:c.1340A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001410882.1:c.1361A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_201570.3:c.1475A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_201571.4:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_201572.4:c.1463A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_201590.3:c.1457A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_201593.3:c.1505A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_201596.3:c.1619A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_201597.3:c.1547A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

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Mus musculus immediate early response 5-like (Ier5l), mRNA
Mus musculus immediate early response 5-like (Ier5l), mRNA
gi|119508419|ref|NM_030244.3|

Nucleotide
Myroides odoratus
Myroides odoratus

Genome

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002696918	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 19, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002696918

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 19, 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, SCV002696918.2

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

Description

The p.N486S variant (also known as c.1457A>G), located in coding exon 13 of the CACNB2 gene, results from an A to G substitution at nucleotide position 1457. The asparagine at codon 486 is replaced by serine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: May 1, 2024

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