NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu) AND Brugada syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 1, 2014
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:: RCV000148451.3

Allele description [Variation Report for NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu)]

NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu)

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.1776C>A (p.Asp592Glu)

Other names:

p.D537E:GAC>GAA

HGVS:

NC_000010.11:g.18539517C>A
NG_016195.1:g.403841C>A
NM_000724.4:c.1611C>A
NM_001167945.2:c.1578C>A
NM_001330060.2:c.1497C>A
NM_201570.3:c.1632C>A
NM_201571.4:c.1692C>A
NM_201572.4:c.1620C>A
NM_201590.3:c.1614C>A
NM_201593.3:c.1662C>A
NM_201596.3:c.1776C>AMANE SELECT
NM_201597.3:c.1704C>A
NP_000715.2:p.Asp537Glu
NP_001161417.1:p.Asp526Glu
NP_001316989.1:p.Asp499Glu
NP_963864.1:p.Asp544Glu
NP_963865.2:p.Asp564Glu
NP_963866.2:p.Asp540Glu
NP_963884.2:p.Asp538Glu
NP_963887.2:p.Asp554Glu
NP_963890.2:p.Asp592Glu
NP_963891.1:p.Asp568Glu
LRG_381t1:c.1776C>A
LRG_381t2:c.1614C>A
LRG_381:g.403841C>A
LRG_381p1:p.Asp592Glu
LRG_381p2:p.Asp538Glu
NC_000010.10:g.18828446C>A
NM_000724.3:c.1611C>A
NM_201590.2:c.1614C>A
NM_201596.2:c.1776C>A

Protein change:

D499E

Links:

dbSNP: rs144182966

NCBI 1000 Genomes Browser:

rs144182966

Molecular consequence:

NM_000724.4:c.1611C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001167945.2:c.1578C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001330060.2:c.1497C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201570.3:c.1632C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201571.4:c.1692C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201572.4:c.1620C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201590.3:c.1614C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201593.3:c.1662C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201596.3:c.1776C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201597.3:c.1704C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Brugada syndrome
Synonyms:: Sudden unexpected nocturnal death syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Death Syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015263; MedGen: C1142166; OMIM: PS601144

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Gm2420 predicted gene 2420 [Mus musculus]
Gm2420 predicted gene 2420 [Mus musculus]
Gene ID:100039775

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000190150	CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation	criteria provided, single submitter (Amendola et al. (Genome Res. 2015))	Uncertain significance (Jun 1, 2014)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000190150

CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation

criteria provided, single submitter

(Amendola et al. (Genome Res. 2015))

Uncertain significance
(Jun 1, 2014)

germline

research

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	unknown	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, et al.

Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30.

PubMed [citation]

PMID:: 25637381
PMCID:: PMC4352885

Details of each submission

From CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation, SCV000190150.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

Description

Low GERP score may suggest that this variant may belong in a lower pathogenicity class

#	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: Sep 29, 2024

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