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NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 11, 2019
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:
RCV000251462.5

Allele description [Variation Report for NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile)]

NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile)

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.1511C>T (p.Thr504Ile)
Other names:
p.T449I:ACT>ATT
HGVS:
  • NC_000010.11:g.18539252C>T
  • NG_016195.1:g.403576C>T
  • NM_000724.4:c.1346C>T
  • NM_001167945.2:c.1313C>T
  • NM_001330060.2:c.1232C>T
  • NM_201570.3:c.1367C>T
  • NM_201571.4:c.1427C>T
  • NM_201572.4:c.1355C>T
  • NM_201590.3:c.1349C>T
  • NM_201593.3:c.1397C>T
  • NM_201596.3:c.1511C>TMANE SELECT
  • NM_201597.3:c.1439C>T
  • NP_000715.2:p.Thr449Ile
  • NP_001161417.1:p.Thr438Ile
  • NP_001316989.1:p.Thr411Ile
  • NP_963864.1:p.Thr456Ile
  • NP_963865.2:p.Thr476Ile
  • NP_963866.2:p.Thr452Ile
  • NP_963884.2:p.Thr450Ile
  • NP_963887.2:p.Thr466Ile
  • NP_963890.2:p.Thr504Ile
  • NP_963891.1:p.Thr480Ile
  • LRG_381t1:c.1511C>T
  • LRG_381t2:c.1349C>T
  • LRG_381:g.403576C>T
  • LRG_381p1:p.Thr504Ile
  • LRG_381p2:p.Thr450Ile
  • NC_000010.10:g.18828181C>T
  • NM_000724.3:c.1346C>T
  • NM_201590.2:c.1349C>T
  • NM_201596.2:c.1511C>T
  • NM_201596.3:c.1511C>T
Protein change:
T411I
Links:
dbSNP: rs143326262
NCBI 1000 Genomes Browser:
rs143326262
Molecular consequence:
  • NM_000724.4:c.1346C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167945.2:c.1313C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330060.2:c.1232C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201570.3:c.1367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201571.4:c.1427C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201572.4:c.1355C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201590.3:c.1349C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201593.3:c.1397C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201596.3:c.1511C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201597.3:c.1439C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000319990Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Feb 11, 2019) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.

Burashnikov E, Pfeiffer R, Barajas-Martinez H, Delpón E, Hu D, Desai M, Borggrefe M, Häissaguerre M, Kanter R, Pollevick GD, Guerchicoff A, Laiño R, Marieb M, Nademanee K, Nam GB, Robles R, Schimpf R, Stapleton DD, Viskin S, Winters S, Wolpert C, Zimmern S, et al.

Heart Rhythm. 2010 Dec;7(12):1872-82. doi: 10.1016/j.hrthm.2010.08.026. Epub 2010 Oct 14.

PubMed [citation]
PMID:
20817017
PMCID:
PMC2999985

High prevalence of genetic variants previously associated with Brugada syndrome in new exome data.

Risgaard B, Jabbari R, Refsgaard L, Holst AG, Haunsø S, Sadjadieh A, Winkel BG, Olesen MS, Tfelt-Hansen J.

Clin Genet. 2013 Nov;84(5):489-95. doi: 10.1111/cge.12126. Epub 2013 Mar 11.

PubMed [citation]
PMID:
23414114
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV000319990.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 20, 2025