NM_201596.3(CACNB2):c.1696G>A (p.Ala566Thr) AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 5, 2018
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:: RCV002399605.2

Allele description [Variation Report for NM_201596.3(CACNB2):c.1696G>A (p.Ala566Thr)]

NM_201596.3(CACNB2):c.1696G>A (p.Ala566Thr)

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.1696G>A (p.Ala566Thr)

Other names:

p.A511T:GCC>ACC

HGVS:

NC_000010.11:g.18539437G>A
NG_016195.1:g.403761G>A
NM_000724.4:c.1531G>A
NM_001167945.2:c.1498G>A
NM_001330060.2:c.1417G>A
NM_201570.3:c.1552G>A
NM_201571.4:c.1612G>A
NM_201572.4:c.1540G>A
NM_201590.3:c.1534G>A
NM_201593.3:c.1582G>A
NM_201596.3:c.1696G>AMANE SELECT
NM_201597.3:c.1624G>A
NP_000715.2:p.Ala511Thr
NP_001161417.1:p.Ala500Thr
NP_001316989.1:p.Ala473Thr
NP_963864.1:p.Ala518Thr
NP_963865.2:p.Ala538Thr
NP_963866.2:p.Ala514Thr
NP_963884.2:p.Ala512Thr
NP_963887.2:p.Ala528Thr
NP_963890.2:p.Ala566Thr
NP_963891.1:p.Ala542Thr
LRG_381t1:c.1696G>A
LRG_381t2:c.1534G>A
LRG_381:g.403761G>A
LRG_381p1:p.Ala566Thr
LRG_381p2:p.Ala512Thr
NC_000010.10:g.18828366G>A
NM_000724.3:c.1531G>A
NM_201590.2:c.1534G>A

Protein change:

A473T

Links:

dbSNP: rs202218948

NCBI 1000 Genomes Browser:

rs202218948

Molecular consequence:

NM_000724.4:c.1531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001167945.2:c.1498G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001330060.2:c.1417G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201570.3:c.1552G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201571.4:c.1612G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201572.4:c.1540G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201590.3:c.1534G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201593.3:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201596.3:c.1696G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201597.3:c.1624G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

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splicing factor U2AF 26 kDa subunit isoform 1 [Homo sapiens]
splicing factor U2AF 26 kDa subunit isoform 1 [Homo sapiens]
gi|94536809|ref|NP_001035515.1|

Protein
histone H4 [Mus musculus]
histone H4 [Mus musculus]
gi|28316746|ref|NP_783583.1|

Protein
Chain A, Mitogen-activated protein kinase 14
Chain A, Mitogen-activated protein kinase 14
gi|22219219|pdb|1LEW|A

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002706687	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Jul 5, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002706687

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Jul 5, 2018)

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, SCV002706687.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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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