NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 24, 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:: RCV000170858.6

Allele description [Variation Report for NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile)]

NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile)

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.1702G>A (p.Val568Ile)

Other names:

p.V513I:GTA>ATA

HGVS:

NC_000010.11:g.18539443G>A
NG_016195.1:g.403767G>A
NM_000724.4:c.1537G>A
NM_001167945.2:c.1504G>A
NM_001330060.2:c.1423G>A
NM_201570.3:c.1558G>A
NM_201571.4:c.1618G>A
NM_201572.4:c.1546G>A
NM_201590.3:c.1540G>A
NM_201593.3:c.1588G>A
NM_201596.3:c.1702G>AMANE SELECT
NM_201597.3:c.1630G>A
NP_000715.2:p.Val513Ile
NP_001161417.1:p.Val502Ile
NP_001316989.1:p.Val475Ile
NP_963864.1:p.Val520Ile
NP_963865.2:p.Val540Ile
NP_963866.2:p.Val516Ile
NP_963884.2:p.Val514Ile
NP_963887.2:p.Val530Ile
NP_963890.2:p.Val568Ile
NP_963891.1:p.Val544Ile
LRG_381t1:c.1702G>A
LRG_381t2:c.1540G>A
LRG_381:g.403767G>A
LRG_381p1:p.Val568Ile
LRG_381p2:p.Val514Ile
NC_000010.10:g.18828372G>A
NM_000724.3:c.1537G>A
NM_201590.2:c.1540G>A

Protein change:

V475I

Links:

dbSNP: rs142639223

NCBI 1000 Genomes Browser:

rs142639223

Molecular consequence:

NM_000724.4:c.1537G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001167945.2:c.1504G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001330060.2:c.1423G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201570.3:c.1558G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201571.4:c.1618G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201572.4:c.1546G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201590.3:c.1540G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201593.3:c.1588G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201596.3:c.1702G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201597.3:c.1630G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000223413	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Sep 24, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000223413

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Sep 24, 2024)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000223413.16

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

Description

Identified in patients with Brugada syndrome in published literature (PMID: 25650408, 34546463); In silico analysis indicates that this missense variant does not alter protein structure/function; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (PMID: 25741868); This variant is associated with the following publications: (PMID: 25650408, 34546463)

#	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

Last Updated: Oct 8, 2024

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