NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr) AND not provided

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Dec 1, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000170855.18

Allele description [Variation Report for NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)]

NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)

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.641G>C (p.Ser214Thr)

Other names:

p.S159T:AGT>ACT

HGVS:

NC_000010.11:g.18506518G>C
NG_016195.1:g.370842G>C
NM_000724.4:c.476G>C
NM_001167945.2:c.557G>C
NM_001330060.2:c.476G>C
NM_201570.3:c.497G>C
NM_201571.4:c.557G>C
NM_201572.4:c.557G>C
NM_201590.3:c.479G>C
NM_201593.3:c.641G>C
NM_201596.3:c.641G>CMANE SELECT
NM_201597.3:c.641G>C
NP_000715.2:p.Ser159Thr
NP_001161417.1:p.Ser186Thr
NP_001316989.1:p.Ser159Thr
NP_963864.1:p.Ser166Thr
NP_963865.2:p.Ser186Thr
NP_963866.2:p.Ser186Thr
NP_963884.2:p.Ser160Thr
NP_963887.2:p.Ser214Thr
NP_963890.2:p.Ser214Thr
NP_963891.1:p.Ser214Thr
LRG_381t1:c.641G>C
LRG_381t2:c.479G>C
LRG_381:g.370842G>C
LRG_381p1:p.Ser214Thr
LRG_381p2:p.Ser160Thr
NC_000010.10:g.18795447G>C
NM_000724.3:c.476G>C
NM_201590.2:c.479G>C
NM_201596.2:c.641G>C

Protein change:

S159T

Links:

dbSNP: rs149253719

NCBI 1000 Genomes Browser:

rs149253719

Molecular consequence:

NM_000724.4:c.476G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001167945.2:c.557G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001330060.2:c.476G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_201570.3:c.497G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_201571.4:c.557G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_201572.4:c.557G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_201590.3:c.479G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_201593.3:c.641G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_201596.3:c.641G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_201597.3:c.641G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000050760	Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq	criteria provided, single submitter (Ng et al. (Circ Cardiovasc Genet. 2013))	Likely benign (Jun 24, 2013)	unknown	research	PubMed (1) [See all records that cite this PMID]
SCV000223410	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Sep 23, 2020)	germline	clinical testing	Citation Link,
SCV001147837	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Dec 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000050760

Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq

criteria provided, single submitter

(Ng et al. (Circ Cardiovasc Genet. 2013))

Likely benign
(Jun 24, 2013)

unknown

research

PubMed (1)
[See all records that cite this PMID]

SCV000223410

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Sep 23, 2020)

germline

clinical testing

Citation Link,

SCV001147837

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Benign
(Dec 1, 2023)

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	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	3	not provided	not provided	not provided	not provided	research

Citations

PubMed

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]

PMID:: 23861362
PMCID:: PMC3887521

Details of each submission

From Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq, SCV000050760.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		3	not provided	not provided	not provided

From GeneDx, SCV000223410.10

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

Description

This variant is associated with the following publications: (PMID: 25637381, 20817017, 24055113, 23861362, 27650965)

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV001147837.13

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

Description

CACNB2: BP4, BS1, BS2

#	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		1	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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