NM_005477.3(HCN4):c.1132C>T (p.Arg378Cys) AND Cardiovascular phenotype

Clinical significance:Uncertain significance (Last evaluated: May 4, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000619663.1

Allele description [Variation Report for NM_005477.3(HCN4):c.1132C>T (p.Arg378Cys)]

NM_005477.3(HCN4):c.1132C>T (p.Arg378Cys)

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.1132C>T (p.Arg378Cys)
Other names:
p.R378C:CGC>TGC
HGVS:
  • NC_000015.10:g.73343462G>A
  • NG_009063.1:g.30803C>T
  • NM_005477.3:c.1132C>TMANE SELECT
  • NP_005468.1:p.Arg378Cys
  • NC_000015.9:g.73635803G>A
  • NM_005477.2:c.1132C>T
Protein change:
R378C
Links:
dbSNP: rs758468167
NCBI 1000 Genomes Browser:
rs758468167
Molecular consequence:
  • NM_005477.3:c.1132C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000737997Ambry Geneticscriteria provided, single submitter
Uncertain significance
(May 4, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000737997.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.R378C variant (also known as c.1132C>T), located in coding exon 2 of the HCN4 gene, results from a C to T substitution at nucleotide position 1132. The arginine at codon 378 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

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