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

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Sep 25, 2021)
Last evaluated:
Feb 23, 2021
Accession:
VCV000412790.7
Variation ID:
412790
Description:
single nucleotide variant
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NM_005477.3(HCN4):c.2210A>G (p.Gln737Arg)

Allele ID
400344
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q24.1
Genomic location
15: 73323883 (GRCh38) GRCh38 UCSC
15: 73616224 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.73323883T>C
NC_000015.9:g.73616224T>C
NG_009063.1:g.50382A>G
NM_005477.3:c.2210A>G MANE Select NP_005468.1:p.Gln737Arg missense
Protein change
Q737R
Other names
-
Canonical SPDI
NC_000015.10:73323882:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00046
The Genome Aggregation Database (gnomAD) 0.00048
Trans-Omics for Precision Medicine (TOPMed) 0.00040
The Genome Aggregation Database (gnomAD), exomes 0.00018
Exome Aggregation Consortium (ExAC) 0.00021
Links
ClinGen: CA7649076
dbSNP: rs146732972
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Dec 4, 2020 RCV000474429.4
Uncertain significance 1 criteria provided, single submitter Mar 12, 2019 RCV000617845.1
Likely benign 1 criteria provided, single submitter Feb 23, 2021 RCV001704562.1
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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
Likely benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Brugada syndrome 8
Allele origin: germline
Invitae
Accession: SCV000554493.5
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Mar 12, 2019)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000737501.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
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 … (more)
Likely benign
(Feb 23, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000714607.1
Submitted: (Sep 25, 2021)
Evidence details

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 rs146732972...

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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