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NM_005477.3(HCN4):c.520C>T (p.Pro174Ser) AND HCN4-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 7, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004739551.1

Allele description [Variation Report for NM_005477.3(HCN4):c.520C>T (p.Pro174Ser)]

NM_005477.3(HCN4):c.520C>T (p.Pro174Ser)

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.520C>T (p.Pro174Ser)
Other names:
p.P174S:CCG>TCG
HGVS:
  • NC_000015.10:g.73367751G>A
  • NG_009063.1:g.6514C>T
  • NM_005477.3:c.520C>TMANE SELECT
  • NP_005468.1:p.Pro174Ser
  • NC_000015.9:g.73660092G>A
  • NM_005477.2:c.520C>T
  • p.(Pro174Ser)
Protein change:
P174S
Links:
dbSNP: rs542532555
NCBI 1000 Genomes Browser:
rs542532555
Molecular consequence:
  • NM_005477.3:c.520C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HCN4-related disorder
Synonyms:
HCN4-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005348608PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Aug 7, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005348608.1

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

Description

The HCN4 c.520C>T variant is predicted to result in the amino acid substitution p.Pro174Ser. This variant has been reported in individuals with hypertrophic cardiomyopathy or sick sinus syndrome (Jou et al. 2017. PubMed ID: 28803248; Robyns et al. 2017. PubMed ID: 29255176). In a zebrafish model, this variant was considered to be non-functional (Jou et al. 2017. PubMed ID: 28803248). This variant is reported in 0.018% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Oct 13, 2024