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NM_001378969.1(KCND3):c.1372-6dup AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Sep 20, 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:
RCV000994071.9

Allele description [Variation Report for NM_001378969.1(KCND3):c.1372-6dup]

NM_001378969.1(KCND3):c.1372-6dup

Gene:
KCND3:potassium voltage-gated channel subfamily D member 3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1p13.2
Genomic location:
Preferred name:
NM_001378969.1(KCND3):c.1372-6dup
HGVS:
  • NC_000001.11:g.111780326dup
  • NG_032011.2:g.213836dup
  • NM_001378969.1:c.1372-6dupMANE SELECT
  • NM_001378970.1:c.1372-6dup
  • NM_004980.5:c.1372-6dup
  • NM_172198.3:c.1372-6dup
  • LRG_445:g.213836dup
  • NC_000001.10:g.112322941_112322942insA
  • NC_000001.10:g.112322948dup
Links:
dbSNP: rs769051410
NCBI 1000 Genomes Browser:
rs769051410
Molecular consequence:
  • NM_001378969.1:c.1372-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378970.1:c.1372-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004980.5:c.1372-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_172198.3:c.1372-6dup - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001966450Clinical 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

SCV002008401GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Sep 20, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001966450.1

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

From GeneDx, SCV002008401.2

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

Description

This variant is associated with the following publications: (PMID: 26582918)

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

Last Updated: Sep 29, 2024