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NM_005477.3(HCN4):c.1371+9G>A

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 5, 2020
Accession:
VCV000095283.4
Variation ID:
95283
Description:
single nucleotide variant
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NM_005477.3(HCN4):c.1371+9G>A

Allele ID
101182
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q24.1
Genomic location
15: 73332122 (GRCh38) GRCh38 UCSC
15: 73624463 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.73332122C>T
NC_000015.9:g.73624463C>T
NM_005477.3:c.1371+9G>A MANE Select
NG_009063.1:g.42143G>A
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:73332121:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00069
The Genome Aggregation Database (gnomAD) 0.00051
Exome Aggregation Consortium (ExAC) 0.00019
1000 Genomes Project 0.00060
Trans-Omics for Precision Medicine (TOPMed) 0.00053
The Genome Aggregation Database (gnomAD), exomes 0.00012
Links
ClinGen: CA222867
dbSNP: rs200303699
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 Oct 20, 2016 RCV000081297.6
Uncertain significance 1 criteria provided, single submitter Sep 27, 2013 RCV000723657.3
Benign 1 criteria provided, single submitter Oct 5, 2020 RCV001085378.2
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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
(Sep 27, 2013)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000113206.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Oct 05, 2020)
criteria provided, single submitter
Method: clinical testing
Brugada syndrome 8
Allele origin: germline
Invitae
Accession: SCV000554494.6
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Oct 20, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000532871.4
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)

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 rs200303699...

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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 Jun 14, 2021