NM_005477.3(HCN4):c.2210A>G (p.Gln737Arg) AND Cardiovascular phenotype

Clinical significance:Uncertain significance (Last evaluated: Mar 12, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000617845.1

Allele description [Variation Report for NM_005477.3(HCN4):c.2210A>G (p.Gln737Arg)]

NM_005477.3(HCN4):c.2210A>G (p.Gln737Arg)

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.2210A>G (p.Gln737Arg)
HGVS:
  • NC_000015.10:g.73323883T>C
  • NG_009063.1:g.50382A>G
  • NM_005477.3:c.2210A>GMANE SELECT
  • NP_005468.1:p.Gln737Arg
  • NC_000015.9:g.73616224T>C
  • NM_005477.2:c.2210A>G
Protein change:
Q737R
Links:
dbSNP: rs146732972
NCBI 1000 Genomes Browser:
rs146732972
Molecular consequence:
  • NM_005477.3:c.2210A>G - 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
SCV000737501Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Mar 12, 2019)
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, SCV000737501.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.Q737R variant (also known as c.2210A>G), located in coding exon 8 of the HCN4 gene, results from an A to G substitution at nucleotide position 2210. The glutamine at codon 737 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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

Last Updated: Oct 8, 2021

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