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NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) AND not provided

Germline classification:
Benign/Likely benign (5 submissions)
Last evaluated:
Nov 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:
RCV000487686.33

Allele description [Variation Report for NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe)]

NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe)

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.311G>T (p.Cys104Phe)
Other names:
p.C104F:TGC>TTC
HGVS:
  • NC_000002.12:g.151880879C>A
  • NG_012641.1:g.223201G>T
  • NM_000726.4:c.311G>T
  • NM_000726.5:c.311G>TMANE SELECT
  • NM_001005746.4:c.257G>T
  • NM_001005747.4:c.209G>T
  • NM_001145798.2:c.311G>T
  • NM_001320722.3:c.170G>T
  • NM_001330113.2:c.257G>T
  • NM_001330114.2:c.-324G>T
  • NM_001330115.2:c.209G>T
  • NM_001330116.2:c.170G>T
  • NM_001330117.2:c.-248G>T
  • NM_001330118.1:c.170G>T
  • NP_000717.2:p.Cys104Phe
  • NP_001005746.1:p.Cys86Phe
  • NP_001005747.1:p.Cys70Phe
  • NP_001139270.1:p.Cys104Phe
  • NP_001307651.1:p.Cys57Phe
  • NP_001317042.1:p.Cys86Phe
  • NP_001317044.1:p.Cys70Phe
  • NP_001317045.1:p.Cys57Phe
  • NP_001317047.1:p.Cys57Phe
  • NC_000002.11:g.152737393C>A
  • NM_000726.2:c.311G>T
  • NM_000726.3:c.311G>T
  • O00305:p.Cys104Phe
Protein change:
C104F; CYS104PHE
Links:
UniProtKB: O00305#VAR_013669; OMIM: 601949.0002; dbSNP: rs1805031
NCBI 1000 Genomes Browser:
rs1805031
Molecular consequence:
  • NM_001330114.2:c.-324G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001330117.2:c.-248G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000726.5:c.311G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005746.4:c.257G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005747.4:c.209G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145798.2:c.311G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320722.3:c.170G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330113.2:c.257G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330115.2:c.209G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330116.2:c.170G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330118.1:c.170G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

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
SCV000240399GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Benign
(Jan 16, 2019)
germlineclinical testing

Citation Link,

SCV000575234CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Likely benign
(Nov 1, 2023)
germlineclinical testing

Citation Link,

SCV001742577Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus
no assertion criteria provided
Uncertain significancegermlineclinical testing

SCV001929273Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Uncertain significancegermlineclinical testing

SCV001965430Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Uncertain significancegermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000240399.15

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 10762541)

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

From CeGaT Center for Human Genetics Tuebingen, SCV000575234.29

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided

Description

CACNB4: PP3, BS1

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001742577.3

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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001929273.1

#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, SCV001965430.1

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

Last Updated: Jul 15, 2024