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NM_005477.3(HCN4):c.2056G>A (p.Val686Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Aug 13, 2018
Accession:
VCV000648120.1
Variation ID:
648120
Description:
single nucleotide variant
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NM_005477.3(HCN4):c.2056G>A (p.Val686Met)

Allele ID
643533
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q24.1
Genomic location
15: 73324176 (GRCh38) GRCh38 UCSC
15: 73616517 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.73324176C>T
NC_000015.9:g.73616517C>T
NG_009063.1:g.50089G>A
NM_005477.3:c.2056G>A MANE Select NP_005468.1:p.Val686Met missense
Protein change
V686M
Other names
-
Canonical SPDI
NC_000015.10:73324175:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
1000 Genomes Project 0.00020
Exome Aggregation Consortium (ExAC) 0.00001
Links
dbSNP: rs550848544
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 Aug 13, 2018 RCV000802779.1
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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
Uncertain significance
(Aug 13, 2018)
criteria provided, single submitter
Method: clinical testing
Brugada syndrome 8
Allele origin: germline
Invitae
Accession: SCV000942622.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces valine with methionine at codon 686 of the HCN4 protein (p.Val686Met). The valine residue is highly conserved and there is a … (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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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 rs550848544...

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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