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NM_005477.3(HCN4):c.2398C>T (p.Arg800Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 6, 2020)
Last evaluated:
Jul 10, 2019
Accession:
VCV000655088.2
Variation ID:
655088
Description:
single nucleotide variant
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NM_005477.3(HCN4):c.2398C>T (p.Arg800Cys)

Allele ID
643531
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q24.1
Genomic location
15: 73323695 (GRCh38) GRCh38 UCSC
15: 73616036 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.73323695G>A
NC_000015.9:g.73616036G>A
NG_009063.1:g.50570C>T
NM_005477.3:c.2398C>T MANE Select NP_005468.1:p.Arg800Cys missense
Protein change
R800C
Other names
-
Canonical SPDI
NC_000015.10:73323694:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00009
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
1000 Genomes Project 0.00020
Links
dbSNP: rs181894662
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jul 10, 2019 RCV000811194.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HCN4 - - GRCh38
GRCh37
782 816

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 10, 2019)
criteria provided, single submitter
Method: clinical testing
Brugada syndrome 8
Allele origin: germline
Invitae
Accession: SCV000951448.2
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces arginine with cysteine at codon 800 of the HCN4 protein (p.Arg800Cys). The arginine residue is highly conserved and there is a … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs181894662...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021