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NM_000726.5(CACNB4):c.1413G>A (p.Arg471=) AND not provided

Germline classification:
Benign (3 submissions)
Last evaluated:
Jan 1, 2024
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:
RCV001705904.11

Allele description [Variation Report for NM_000726.5(CACNB4):c.1413G>A (p.Arg471=)]

NM_000726.5(CACNB4):c.1413G>A (p.Arg471=)

Gene:
CACNB4:calcium voltage-gated channel auxiliary subunit beta 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q23.3
Genomic location:
Preferred name:
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=)
Other names:
p.R471R:AGG>AGA
HGVS:
  • NC_000002.12:g.151839269C>T
  • NG_012641.1:g.264811G>A
  • NM_000726.4:c.1413G>A
  • NM_000726.5:c.1413G>AMANE SELECT
  • NM_001005746.4:c.1359G>A
  • NM_001005747.4:c.1311G>A
  • NM_001145798.2:c.1227G>A
  • NM_001320722.3:c.1272G>A
  • NM_001330113.2:c.1170G>A
  • NM_001330114.2:c.759G>A
  • NM_001330115.2:c.1122G>A
  • NM_001330116.2:c.1083G>A
  • NM_001330117.2:c.855G>A
  • NM_001330118.1:c.1272G>A
  • NP_000717.2:p.Arg471=
  • NP_001005746.1:p.Arg453=
  • NP_001005747.1:p.Arg437=
  • NP_001139270.1:p.Arg409=
  • NP_001307651.1:p.Arg424=
  • NP_001317042.1:p.Arg390=
  • NP_001317043.1:p.Arg253=
  • NP_001317044.1:p.Arg374=
  • NP_001317045.1:p.Arg361=
  • NP_001317046.1:p.Arg285=
  • NP_001317047.1:p.Arg424=
  • NC_000002.11:g.152695783C>T
  • NM_000726.2:c.1413G>A
  • NM_000726.3:c.1413G>A
  • NM_001005747.1:c.1311G>A
  • NP_000717.2:p.(=)
Links:
dbSNP: rs1805029
NCBI 1000 Genomes Browser:
rs1805029
Molecular consequence:
  • NM_000726.5:c.1413G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001005746.4:c.1359G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001005747.4:c.1311G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001145798.2:c.1227G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001320722.3:c.1272G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330113.2:c.1170G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330114.2:c.759G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330115.2:c.1122G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330116.2:c.1083G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330117.2:c.855G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330118.1:c.1272G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
8

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001926682Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

SCV001970720Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

SCV004011209CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Benign
(Jan 1, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes8not providednot providednot providednot providedclinical testing

Details of each submission

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001926682.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001970720.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV004011209.9

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided8not providednot providedclinical testingnot provided

Description

CACNB4: BP4, BS1, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided8not providednot providednot provided

Last Updated: Jul 23, 2024