NM_201596.3(CACNB2):c.1745A>G (p.Tyr582Cys) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 27, 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:: RCV002392666.2

Allele description [Variation Report for NM_201596.3(CACNB2):c.1745A>G (p.Tyr582Cys)]

NM_201596.3(CACNB2):c.1745A>G (p.Tyr582Cys)

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.1745A>G (p.Tyr582Cys)

HGVS:

NC_000010.11:g.18539486A>G
NG_016195.1:g.403810A>G
NM_000724.4:c.1580A>G
NM_001167945.2:c.1547A>G
NM_001330060.2:c.1466A>G
NM_001410882.1:c.1487A>G
NM_201570.3:c.1601A>G
NM_201571.4:c.1661A>G
NM_201572.4:c.1589A>G
NM_201590.3:c.1583A>G
NM_201593.3:c.1631A>G
NM_201596.3:c.1745A>GMANE SELECT
NM_201597.3:c.1673A>G
NP_000715.2:p.Tyr527Cys
NP_001161417.1:p.Tyr516Cys
NP_001316989.1:p.Tyr489Cys
NP_001397811.1:p.Tyr496Cys
NP_963864.1:p.Tyr534Cys
NP_963865.2:p.Tyr554Cys
NP_963866.2:p.Tyr530Cys
NP_963884.2:p.Tyr528Cys
NP_963887.2:p.Tyr544Cys
NP_963890.2:p.Tyr582Cys
NP_963891.1:p.Tyr558Cys
LRG_381t1:c.1745A>G
LRG_381t2:c.1583A>G
LRG_381:g.403810A>G
LRG_381p1:p.Tyr582Cys
LRG_381p2:p.Tyr528Cys
NC_000010.10:g.18828415A>G
NM_201590.2:c.1583A>G

Protein change:

Y489C

Molecular consequence:

NM_000724.4:c.1580A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001167945.2:c.1547A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330060.2:c.1466A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001410882.1:c.1487A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_201570.3:c.1601A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_201571.4:c.1661A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_201572.4:c.1589A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_201590.3:c.1583A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_201593.3:c.1631A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_201596.3:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_201597.3:c.1673A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002703416	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 27, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002703416

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 27, 2021)

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, SCV002703416.2

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

Description

The p.Y528C variant (also known as c.1583A>G), located in coding exon 13 of the CACNB2 gene, results from an A to G substitution at nucleotide position 1583. The tyrosine at codon 528 is replaced by cysteine, an amino acid with highly dissimilar 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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