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NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg) AND not provided

Germline classification:
Likely benign (3 submissions)
Last evaluated:
Jun 17, 2021
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:
RCV001555788.3

Allele description [Variation Report for NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg)]

NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg)

Gene:
KCND3:potassium voltage-gated channel subfamily D member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.2
Genomic location:
Preferred name:
NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg)
HGVS:
  • NC_000001.11:g.111982086T>C
  • NG_032011.2:g.12070A>G
  • NM_001378969.1:c.641A>GMANE SELECT
  • NM_001378970.1:c.641A>G
  • NM_004980.5:c.641A>G
  • NM_172198.3:c.641A>G
  • NP_001365898.1:p.Lys214Arg
  • NP_001365899.1:p.Lys214Arg
  • NP_004971.2:p.Lys214Arg
  • NP_004971.2:p.Lys214Arg
  • NP_751948.1:p.Lys214Arg
  • LRG_445t1:c.641A>G
  • LRG_445:g.12070A>G
  • LRG_445p1:p.Lys214Arg
  • NC_000001.10:g.112524708T>C
  • NM_004980.4:c.641A>G
Protein change:
K214R
Links:
dbSNP: rs142744204
NCBI 1000 Genomes Browser:
rs142744204
Molecular consequence:
  • NM_001378969.1:c.641A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378970.1:c.641A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004980.5:c.641A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172198.3:c.641A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001777255GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Jun 17, 2021)
germlineclinical testing

Citation Link,

SCV001927243Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

SCV001973320Clinical 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

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001777255.1

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

Description

Reported in a patient with features of cerebellar ataxia referred for whole exome sequencing; however, this variant was inherited from an unaffected mother (Coutelier et al., 2018); Reported in one ostensibly healthy control individual and in association with atrial fibrillation (Giudicessi et al., 2011; Mann et al., 2012); Published functional studies demonstrate no damaging effect (Mann et al., 2012); This variant is associated with the following publications: (PMID: 26220970, 23838598, 25175087, 25410959, 29482223, 22402074, 21349352)

#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, SCV001927243.1

#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, SCV001973320.1

#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: Oct 13, 2024