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NM_005477.3(HCN4):c.1683C>A (p.Gly561=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Oct 15, 2021)
Last evaluated:
Dec 7, 2020
Accession:
VCV000190769.9
Variation ID:
190769
Description:
single nucleotide variant
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NM_005477.3(HCN4):c.1683C>A (p.Gly561=)

Allele ID
188636
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q24.1
Genomic location
15: 73325352 (GRCh38) GRCh38 UCSC
15: 73617693 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.73325352G>T
NC_000015.9:g.73617693G>T
NG_009063.1:g.48913C>A
NM_005477.3:c.1683C>A MANE Select NP_005468.1:p.Gly561= synonymous
Protein change
-
Other names
p.G561G:GGC>GGA
Canonical SPDI
NC_000015.10:73325351:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.01218 (T)

Allele frequency
1000 Genomes Project 0.01218
The Genome Aggregation Database (gnomAD) 0.00982
The Genome Aggregation Database (gnomAD), exomes 0.00236
Exome Aggregation Consortium (ExAC) 0.00288
Trans-Omics for Precision Medicine (TOPMed) 0.01004
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01147
Links
ClinGen: CA301949
dbSNP: rs62641690
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, single submitter Jun 18, 2014 RCV000170928.3
Benign 1 criteria provided, single submitter Aug 7, 2015 RCV000619178.1
Benign 2 criteria provided, single submitter May 1, 2018 RCV000711883.5
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV001115974.1
Benign 1 criteria provided, single submitter Dec 7, 2020 RCV001085024.2
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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
Benign
(Jun 18, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000223487.11
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(May 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842294.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Sick sinus syndrome 2, autosomal dominant
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001273991.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Aug 07, 2015)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000735186.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Benign
(Dec 07, 2020)
criteria provided, single submitter
Method: clinical testing
Brugada syndrome 8
Allele origin: germline
Invitae
Accession: SCV000288898.7
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001978249.1
Submitted: (Oct 15, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001979307.1
Submitted: (Oct 15, 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 rs62641690...

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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 16, 2021