chr10:18539252:C>T Detail (hg38) (CACNB2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr10:18,828,181-18,828,181 View the variant detail on this assembly version.
hg38	chr10:18,539,252-18,539,252

HGVS

CACNB2

Type	Transcript	Protein
RefSeq	NM_001167945.1:c.1427C>T	NP_001161417.1:p.Thr476Ile
	NM_201571.3:c.1427C>T	NP_963865.2:p.Thr476Ile
	NM_201593.2:c.1511C>T	NP_963887.2:p.Thr504Ile
	NM_201596.2:c.1511C>T	NP_963890.2:p.Thr504Ile
	NM_201597.2:c.1439C>T	NP_963891.1:p.Thr480Ile
	NM_201570.2:c.1367C>T	NP_963864.1:p.Thr456Ile
	NM_001330060.1:c.1232C>T	NP_001316989.1:p.Thr411Ile
	NM_201590.2:c.1349C>T	NP_963884.2:p.Thr450Ile
	NM_000724.3:c.1346C>T	NP_000715.2:p.Thr449Ile
Ensemble	ENST00000282343.13:c.1427C>T	ENST00000282343.13:p.Thr476Ile
	ENST00000324631.13:c.1511C>T	ENST00000324631.13:p.Thr504Ile
	ENST00000352115.10:c.1439C>T	ENST00000352115.10:p.Thr480Ile
	ENST00000377315.6:c.1367C>T	ENST00000377315.6:p.Thr456Ile
	ENST00000377319.9:c.1232C>T	ENST00000377319.9:p.Thr411Ile
	ENST00000377328.5:c.761C>T	ENST00000377328.5:p.Thr254Ile
	ENST00000377329.10:c.1349C>T	ENST00000377329.10:p.Thr450Ile
	ENST00000396576.6:c.1346C>T	ENST00000396576.6:p.Thr449Ile
	ENST00000615785.4:c.596C>T	ENST00000615785.4:p.Thr199Ile
	ENST00000617363.4:c.1274C>T	ENST00000617363.4:p.Thr425Ile
	ENST00000645287.2:c.1355C>T	ENST00000645287.2:p.Thr452Ile
	ENST00000650685.1:c.1253C>T	ENST00000650685.1:p.Thr418Ile
	ENST00000652391.1:c.1331C>T	ENST00000652391.1:p.Thr444Ile

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
Show details

Links

CACNB2

Type	Database	ID	Link
Gene	MIM	600003	OMIM
	HGNC	1402	HGNC
	Ensembl	ENSG00000165995	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv366134171	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2014-06-01	no assertion criteria provided	Brugada syndrome	germline	Detail
Benign Likely benign	2022-10-17	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Conflicting interpretations of pathogenicity	2017-12-18	criteria provided, conflicting interpretations	not specified	germline	Detail
Likely benign	2024-01-31	criteria provided, multiple submitters, no conflicts	Brugada syndrome 4	germline	Detail
Likely benign	2019-02-11	criteria provided, single submitter		germline	Detail
Likely benign	2019-01-31	criteria provided, single submitter	Ventricular tachycardia	germline	Detail
Benign	2024-01-08	criteria provided, single submitter	long QT syndrome	paternal	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) AND Brugada syndrome	ClinVar	Detail
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) AND not provided	ClinVar	Detail
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) AND not specified	ClinVar	Detail
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) AND Brugada syndrome 4	ClinVar	Detail
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) AND Cardiovascular phenotype	ClinVar	Detail
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) AND Ventricular tachycardia	ClinVar	Detail
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) AND Long QT syndrome	ClinVar	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs143326262 dbSNP
Genome: hg38
Position: chr10:18,539,252-18,539,252
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8622
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121194
Allele Counts in All Race (ExAC): 191
Heterozygous Counts in All Race (ExAC): 191
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 0.0015759856098486724

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