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NM_005477.3(HCN4):c.3126G>A (p.Pro1042=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 24, 2021)
Last evaluated:
Jan 14, 2021
Accession:
VCV000382812.7
Variation ID:
382812
Description:
single nucleotide variant
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NM_005477.3(HCN4):c.3126G>A (p.Pro1042=)

Allele ID
373671
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q24.1
Genomic location
15: 73322967 (GRCh38) GRCh38 UCSC
15: 73615308 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.73322967C>T
NC_000015.9:g.73615308C>T
NG_009063.1:g.51298G>A
NM_005477.3:c.3126G>A MANE Select NP_005468.1:p.Pro1042= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:73322966:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
ClinGen: CA16606777
dbSNP: rs1057521459
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 Nov 29, 2017 RCV000619123.1
Likely benign 1 criteria provided, single submitter Jun 7, 2020 RCV000647259.4
Likely benign 1 criteria provided, single submitter Jan 14, 2021 RCV001703741.1
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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
(Nov 29, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000738206.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Likely benign
(Jun 07, 2020)
criteria provided, single submitter
Method: clinical testing
Brugada syndrome 8
Allele origin: germline
Invitae
Accession: SCV000769048.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jan 14, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000522935.4
Submitted: (Sep 24, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 23623143)

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 rs1057521459...

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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