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NM_005477.3(HCN4):c.3209G>A (p.Gly1070Asp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
4 (Most recent: Oct 4, 2021)
Last evaluated:
Dec 11, 2018
Accession:
VCV000404136.5
Variation ID:
404136
Description:
single nucleotide variant
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NM_005477.3(HCN4):c.3209G>A (p.Gly1070Asp)

Allele ID
400479
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q24.1
Genomic location
15: 73322884 (GRCh38) GRCh38 UCSC
15: 73615225 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.73322884C>T
NC_000015.9:g.73615225C>T
NG_009063.1:g.51381G>A
NM_005477.3:c.3209G>A MANE Select NP_005468.1:p.Gly1070Asp missense
Protein change
G1070D
Other names
-
Canonical SPDI
NC_000015.10:73322883:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00007
Links
ClinGen: CA7648868
dbSNP: rs772839442
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 11, 2018 RCV000465826.3
Uncertain significance 3 no assertion criteria provided Jan 19, 2018 RCV000786319.3
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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
(Dec 11, 2018)
criteria provided, single submitter
Method: clinical testing
Brugada syndrome 8
Allele origin: germline
Invitae
Accession: SCV000541573.3
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces glycine with aspartic acid at codon 1070 of the HCN4 protein (p.Gly1070Asp). The glycine residue is moderately conserved and there is … (more)
Uncertain significance
(Jan 19, 2018)
no assertion criteria provided
Method: provider interpretation
not provided
Allele origin: germline
Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000925094.1
Submitted: (Aug 15, 2018)
Evidence details
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
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: SCV001918508.1
Submitted: (Sep 23, 2021)
Evidence details
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001963159.1
Submitted: (Oct 04, 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 rs772839442...

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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