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NM_005477.3(HCN4):c.2527G>A (p.Ala843Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 18, 2020
Accession:
VCV000190783.4
Variation ID:
190783
Description:
single nucleotide variant
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NM_005477.3(HCN4):c.2527G>A (p.Ala843Thr)

Allele ID
188630
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q24.1
Genomic location
15: 73323566 (GRCh38) GRCh38 UCSC
15: 73615907 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.73323566C>T
NC_000015.9:g.73615907C>T
NG_009063.1:g.50699G>A
NM_005477.3:c.2527G>A MANE Select NP_005468.1:p.Ala843Thr missense
Protein change
A843T
Other names
p.A843T:GCC>ACC
Canonical SPDI
NC_000015.10:73323565:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00003
Links
ClinGen: CA301964
dbSNP: rs777023781
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Jun 28, 2018 RCV000733914.2
Uncertain significance 1 criteria provided, single submitter Mar 18, 2020 RCV001062392.2
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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
781 815

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 01, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000223502.12
Submitted: (Jan 29, 2019)
Evidence details
Comment:
p.Ala843Thr (GCC>ACC): c.2527 G>A in exon 8 of the HCN4 gene (NM_005477.2). The A843T variant has not been published as a mutation, nor has it … (more)
Uncertain significance
(Jun 28, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000862019.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Mar 18, 2020)
criteria provided, single submitter
Method: clinical testing
Brugada syndrome 8
Allele origin: germline
Invitae
Accession: SCV001227189.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces alanine with threonine at codon 843 of the HCN4 protein (p.Ala843Thr). The alanine 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=HCN4 - - - -

Text-mined citations for rs777023781...

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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