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NM_002234.4(KCNA5):c.544G>A (p.Gly182Arg)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Oct 30, 2021)
Last evaluated:
Oct 30, 2020
Accession:
VCV000469594.6
Variation ID:
469594
Description:
single nucleotide variant
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NM_002234.4(KCNA5):c.544G>A (p.Gly182Arg)

Allele ID
463145
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.32
Genomic location
12: 5044691 (GRCh38) GRCh38 UCSC
12: 5153857 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.5153857G>A
NC_000012.12:g.5044691G>A
NG_012198.1:g.5773G>A
NM_002234.4:c.544G>A MANE Select NP_002225.2:p.Gly182Arg missense
Protein change
G182R
Other names
-
Canonical SPDI
NC_000012.12:5044690:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00021
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00014
Links
ClinGen: CA6399652
dbSNP: rs755408841
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 30, 2020 RCV001087399.2
Uncertain significance 2 criteria provided, single submitter Jan 13, 2020 RCV000786331.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNA5 - - GRCh38
GRCh37
260 318

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Oct 30, 2020)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 7
Allele origin: germline
Invitae
Accession: SCV000646994.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Jan 13, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001985417.1
Submitted: (Oct 30, 2021)
Evidence details
Comment:
Reported in association with idiopathic pulmonary hypertension; patient-specific clinical data and segregation data were not provided (Remillard et al., 2007); In silico analysis, which includes … (more)
Uncertain significance
(Jan 24, 2018)
no assertion criteria provided
Method: provider interpretation
not provided
Allele origin: germline
Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000925106.1
Submitted: (Aug 15, 2018)
Evidence details
Comment:
p.Gly182Arg (G182R; c.544G>A) in exon 1 of the KCNA5 gene (NM_002234.3; ENST00000252321.4) Chromosome position: 12:5153857 G / A Found in a male patient with early-onset … (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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs755408841...

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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 Nov 06, 2021