NM_005477.3(HCN4):c.2399G>A (p.Arg800His) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 25, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000489092.1

Allele description [Variation Report for NM_005477.3(HCN4):c.2399G>A (p.Arg800His)]

NM_005477.3(HCN4):c.2399G>A (p.Arg800His)

Gene:
HCN4:hyperpolarization activated cyclic nucleotide gated potassium channel 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q24.1
Genomic location:
Preferred name:
NM_005477.3(HCN4):c.2399G>A (p.Arg800His)
HGVS:
  • NC_000015.10:g.73323694C>T
  • NG_009063.1:g.50571G>A
  • NM_005477.3:c.2399G>AMANE SELECT
  • NP_005468.1:p.Arg800His
  • NC_000015.9:g.73616035C>T
  • NM_005477.2:c.2399G>A
Protein change:
R800H
Links:
dbSNP: rs375180021
NCBI 1000 Genomes Browser:
rs375180021
Molecular consequence:
  • NM_005477.3:c.2399G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000576606GeneDxcriteria provided, single submitter
Uncertain significance
(Apr 25, 2017)
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 GeneDx, SCV000576606.4

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

Description

A variant of uncertain significance has been identified in the HCN4 gene. The R800H variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). However, the R800H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is only conserved in mammals and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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

Last Updated: Oct 8, 2021

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